E5RG20 · E5RG20_HUMAN
- ProteinSurfactant protein C
- GeneSFTPC
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids155 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1827735137 | 3 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.22161835G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161835G>A Locations: - p.Val3Met (Ensembl:ENST00000520605) - c.7G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59346175 RCV001248771 rs201896861 | 4 | G>S | Surfactant metabolism dysfunction, pulmonary, 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.09) Somatic: Yes Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000008.11:g.22161838G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161838G>A Locations: - p.Gly4Ser (Ensembl:ENST00000520605) - c.10G>A (Ensembl:ENST00000520605) Disease association: - Surfactant metabolism dysfunction, pulmonary, 1 Source type: large scale study Cross-references: | |||||||
rs1348077478 | 5 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.22161841A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161841A>G Locations: - p.Ser5Gly (Ensembl:ENST00000520605) - c.13A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827736332 | 7 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22161848A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161848A>G Locations: - p.Glu7Gly (Ensembl:ENST00000520605) - c.20A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1489591822 | 8 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22161850G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161850G>T Locations: - p.Val8Phe (Ensembl:ENST00000520605) - c.22G>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1489591822 | 8 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22161850G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161850G>C Locations: - p.Val8Leu (Ensembl:ENST00000520605) - c.22G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs11552815 | 9 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22161854T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161854T>C Locations: - p.Leu9Pro (Ensembl:ENST00000520605) - c.26T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827737974 | 10 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.22161858G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161858G>A Locations: - p.Met10Ile (Ensembl:ENST00000520605) - c.30G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs773026639 | 10 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.22161856A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161856A>T Locations: - p.Met10Leu (Ensembl:ENST00000520605) - c.28A>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827737800 | 10 | M>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.739) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22161857T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161857T>G Locations: - p.Met10Arg (Ensembl:ENST00000520605) - c.29T>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827738336 | 12 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.22161863G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161863G>A Locations: - p.Ser12Asn (Ensembl:ENST00000520605) - c.35G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV100110215 rs1827738719 | 13 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000008.11:g.22161866C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161866C>T Locations: - p.P13L (NCI-TCGA:ENST00000520605) - p.Pro13Leu (Ensembl:ENST00000520605) - c.38C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs2131811698 | 14 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.22161869C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22161869C>T Locations: - p.Pro14Leu (Ensembl:ENST00000520605) - c.41C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV105113968 | 14 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22161869C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22161869C>A Locations: - p.Pro14Gln (cosmic curated:ENST00000520605) - c.41C>A (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
RCV001906643 RCV002423012 rs2131816806 | 15 | V>F | Hereditary pulmonary alveolar proteinosis (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163080G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163080G>T Locations: - p.Val15Phe (Ensembl:ENST00000520605) - c.43G>T (Ensembl:ENST00000520605) Disease association: - Hereditary pulmonary alveolar proteinosis Source type: large scale study Cross-references: | |||||||
rs1827825083 | 18 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163091G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163091G>A Locations: - p.Met18Ile (Ensembl:ENST00000520605) - c.54G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827824904 | 18 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163090T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163090T>C Locations: - p.Met18Thr (Ensembl:ENST00000520605) - c.53T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827824745 | 18 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163089A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163089A>G Locations: - p.Met18Val (Ensembl:ENST00000520605) - c.52A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs121917834 | 20 | I>N | Surfactant metabolism dysfunction, pulmonary, 2 (smdp2) (Ensembl) | Pathogenic (Ensembl) | ExAC TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163096T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163096T>A Locations: - p.Ile20Asn (Ensembl:ENST00000520605) - c.59T>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
COSV59345309 rs1000316822 | 22 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated (0.06) Somatic: Yes Population frequencies: - MAF: 0.00001604 (gnomAD) Accession: NC_000008.11:g.22163102C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163102C>T Locations: - p.A22V (NCI-TCGA:ENST00000520605) - p.Ala22Val (Ensembl:ENST00000520605) - c.65C>T (Ensembl:ENST00000520605) Source type: large scale study | |||||||
COSV105113969 rs201454136 | 23 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000008.11:g.22163105C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163105C>T Locations: - p.Pro23Leu (Ensembl:ENST00000520605) - c.68C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs201454136 | 23 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.22163105C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163105C>A Locations: - p.Pro23Gln (Ensembl:ENST00000520605) - c.68C>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs1827826905 | 24 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.22163108A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163108A>G Locations: - p.Glu24Gly (Ensembl:ENST00000520605) - c.71A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs772841457 | 24 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163107G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163107G>A Locations: - p.Glu24Lys (Ensembl:ENST00000520605) - c.70G>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs2131816947 | 25 | A>D | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.836) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163111C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163111C>A Locations: - p.Ala25Asp (Ensembl:ENST00000520605) - c.74C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV100109891 | 25 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163111C>G Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163111C>G Locations: - p.A25G (NCI-TCGA:ENST00000520605) - p.Ala25Gly (cosmic curated:ENST00000520605) - c.74C>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827827082 | 25 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163110G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163110G>C Locations: - p.Ala25Pro (Ensembl:ENST00000520605) - c.73G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV107385260 | 25 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163110G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163110G>A Locations: - p.Ala25Thr (cosmic curated:ENST00000520605) - c.73G>A (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59346253 rs377222742 | 28 | R>C | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000008.11:g.22163119C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163119C>T Locations: - p.Arg28Cys (Ensembl:ENST00000520605) - c.82C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs766383484 | 28 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000008.11:g.22163120G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163120G>A Locations: - p.Arg28His (Ensembl:ENST00000520605) - c.83G>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs1827828323 | 30 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.22163125G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163125G>T Locations: - p.Ala30Ser (Ensembl:ENST00000520605) - c.88G>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827828650 | 31 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.313) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.22163129T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163129T>A Locations: - p.Leu31Gln (Ensembl:ENST00000520605) - c.92T>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs966750611 | 33 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000008.11:g.22163135A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163135A>G Locations: - p.Glu33Gly (Ensembl:ENST00000520605) - c.98A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs754831645 | 33 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000008.11:g.22163134G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163134G>A Locations: - p.Glu33Lys (Ensembl:ENST00000520605) - c.97G>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs966750611 | 33 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.22163135A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163135A>T Locations: - p.Glu33Val (Ensembl:ENST00000520605) - c.98A>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827829225 | 34 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.22163137C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163137C>A Locations: - p.His34Asn (Ensembl:ENST00000520605) - c.100C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV108103669 | 35 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163140C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163140C>G Locations: - p.Leu35Val (cosmic curated:ENST00000520605) - c.103C>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV108103673 | 36 | V>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163144T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163144T>G Locations: - p.Val36Gly (cosmic curated:ENST00000520605) - c.107T>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827829596 | 37 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.22163147C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163147C>G Locations: - p.Thr37Ser (Ensembl:ENST00000520605) - c.110C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827830072 | 38 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.22163149A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163149A>G Locations: - p.Thr38Ala (Ensembl:ENST00000520605) - c.112A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV100110096 rs1827830266 | 39 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000008.11:g.22163152G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163152G>A Locations: - p.A39T (NCI-TCGA:ENST00000520605) - p.Ala39Thr (Ensembl:ENST00000520605) - c.115G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs777995190 | 40 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.22163156C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163156C>T Locations: - p.Thr40Ile (Ensembl:ENST00000520605) - c.119C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1586421187 | 40 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163155A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163155A>C Locations: - p.Thr40Pro (Ensembl:ENST00000520605) - c.118A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs552621627 | 42 | S>Y | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.22163162C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163162C>A Locations: - p.Ser42Tyr (Ensembl:ENST00000520605) - c.125C>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
RCV003227585 rs927644577 | 44 | G>R | Surfactant metabolism dysfunction, pulmonary, 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163167G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163167G>C Locations: - p.Gly44Arg (Ensembl:ENST00000520605) - c.130G>C (Ensembl:ENST00000520605) Disease association: - Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2) Source type: large scale study Cross-references: | |||||||
COSV100109325 rs927644577 | 44 | G>S | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000008.11:g.22163167G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163167G>A Locations: - p.Gly44Ser (Ensembl:ENST00000520605) - c.130G>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs747785707 | 48 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.22163179C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163179C>T Locations: - p.Leu48Phe (Ensembl:ENST00000520605) - c.142C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs772568845 | 49 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.22163182G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163182G>T Locations: - p.Val49Leu (Ensembl:ENST00000520605) - c.145G>T (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs772568845 | 49 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163182G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163182G>A Locations: - p.Val49Met (Ensembl:ENST00000520605) - c.145G>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs1827833360 | 50 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.22163186T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163186T>C Locations: - p.Val50Ala (Ensembl:ENST00000520605) - c.149T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59345505 | 52 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163192A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163192A>G Locations: - p.Asp52Gly (cosmic curated:ENST00000520605) - c.155A>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
RCV001808056 rs2131817329 | 52 | D>V | Surfactant metabolism dysfunction, pulmonary, 2 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163192A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163192A>T Locations: - p.Asp52Val (Ensembl:ENST00000520605) - c.155A>T (Ensembl:ENST00000520605) Disease association: - Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2) Source type: large scale study | |||||||
RCV002248189 RCV003101333 rs201933678 | 53 | Y>* | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000008.11:g.22163196C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163196C>A Locations: - p.Tyr53Ter (Ensembl:ENST00000520605) - c.159C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
RCV000988043 rs1586421317 | 53 | Y>H | Interstitial lung disease 2 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163194T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163194T>C Locations: - p.Tyr53His (Ensembl:ENST00000520605) - c.157T>C (Ensembl:ENST00000520605) Disease association: - Interstitial lung disease 2 (ILD2) Source type: large scale study | |||||||
rs760567018 | 57 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163439C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163439C>A Locations: - p.Leu57Met (Ensembl:ENST00000520605) - c.169C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1003901489 | 57 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163440T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163440T>G Locations: - p.Leu57Arg (Ensembl:ENST00000520605) - c.170T>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV100109374 RCV002248190 rs372529179 | 59 | A>T | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000008.11:g.22163445G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163445G>A Locations: - p.Ala59Thr (Ensembl:ENST00000520605) - c.175G>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs1282079356 | 61 | K>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163452A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163452A>T Locations: - p.Lys61Met (Ensembl:ENST00000520605) - c.182A>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59345234 | 63 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163458C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163458C>T Locations: - p.Ala63Val (cosmic curated:ENST00000520605) - c.188C>T (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827855499 | 64 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.22163461C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163461C>T Locations: - p.Pro64Leu (Ensembl:ENST00000520605) - c.191C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59345629 | 64 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163461C>G Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163461C>G Locations: - p.P64R (NCI-TCGA:ENST00000520605) - p.Pro64Arg (cosmic curated:ENST00000520605) - c.191C>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827855203 | 64 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.22163460C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163460C>T Locations: - p.Pro64Ser (Ensembl:ENST00000520605) - c.190C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827855203 | 64 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163460C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163460C>A Locations: - p.Pro64Thr (Ensembl:ENST00000520605) - c.190C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs758875625 | 65 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163463G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163463G>C Locations: - p.Gly65Arg (Ensembl:ENST00000520605) - c.193G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59346585 | 66 | T>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163466A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163466A>G Locations: - p.Thr66Ala (cosmic curated:ENST00000520605) - c.196A>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1466932801 | 66 | T>S | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.22163467C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163467C>G Locations: - p.Thr66Ser (Ensembl:ENST00000520605) - c.197C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59345657 | 68 | C>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163472T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163472T>C Locations: - p.Cys68Arg (cosmic curated:ENST00000520605) - c.202T>C (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1195772231 | 68 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163473G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163473G>A Locations: - p.Cys68Tyr (Ensembl:ENST00000520605) - c.203G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs959072019 | 69 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22163477C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163477C>A Locations: - p.Tyr69Ter (Ensembl:ENST00000520605) - c.207C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs75609798 | 69 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163475T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163475T>C Locations: - p.Tyr69His (Ensembl:ENST00000520605) - c.205T>C (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs75609798 | 69 | Y>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163475T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163475T>A Locations: - p.Tyr69Asn (Ensembl:ENST00000520605) - c.205T>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs77034580 | 69 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163476A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163476A>C Locations: - p.Tyr69Ser (Ensembl:ENST00000520605) - c.206A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs78029713 | 70 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.22163478A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163478A>C Locations: - p.Ile70Leu (Ensembl:ENST00000520605) - c.208A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs78029713 | 70 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000008.11:g.22163478A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163478A>G Locations: - p.Ile70Val (Ensembl:ENST00000520605) - c.208A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs755369109 | 71 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000008.11:g.22163482T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163482T>C Locations: - p.Met71Thr (Ensembl:ENST00000520605) - c.212T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59345665 | 71 | M>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163481A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163481A>G Locations: - p.Met71Val (cosmic curated:ENST00000520605) - c.211A>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs2131818821 | 73 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.22163489A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163489A>G Locations: - p.Ile73Met (Ensembl:ENST00000520605) - c.219A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
VAR_026753 COSV100110313 CA210536 RCV000014095 RCV000731190 RCV002415413 RCV002509156 rs121917834 | 73 | I>T | SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli (UniProt) Hereditary pulmonary alveolar proteinosis (ClinVar) Surfactant metabolism dysfunction, pulmonary, 2 (smdp2) (Ensembl) Surfactant metabolism dysfunction, pulmonary, 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt cosmic curated ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000008.11:g.22163488T>C, NC_000008.11:g.22163096T>C Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163488T>C, NC_000008.11:g.22163096T>C Locations: - p.Ile73Thr (cosmic curated:ENST00000520605) - c.218T>C (cosmic curated:ENST00000520605) - p.Ile73Thr (UniProt:P11686) - p.Ile20Thr (Ensembl:ENST00000520605) - c.59T>C (Ensembl:ENST00000520605) Disease association: - Hereditary pulmonary alveolar proteinosis - Pulmonary surfactant metabolism dysfunction 2 (SMDP2) - Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2) Source type: mixed | |||||||
rs1168400028 | 73 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.22163487A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163487A>G Locations: - p.Ile73Val (Ensembl:ENST00000520605) - c.217A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1014644341 | 74 | A>G | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000008.11:g.22163491C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163491C>G Locations: - p.Ala74Gly (Ensembl:ENST00000520605) - c.221C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs762396570 | 77 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000008.11:g.22163500G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163500G>A Locations: - p.Ser77Asn (Ensembl:ENST00000520605) - c.230G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs762396570 | 77 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.22163500G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163500G>C Locations: - p.Ser77Thr (Ensembl:ENST00000520605) - c.230G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1410884781 | 78 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163502A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163502A>C Locations: - p.Ile78Leu (Ensembl:ENST00000520605) - c.232A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1401760621 | 78 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163503T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163503T>A Locations: - p.Ile78Asn (Ensembl:ENST00000520605) - c.233T>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1401760621 | 78 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163503T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163503T>G Locations: - p.Ile78Ser (Ensembl:ENST00000520605) - c.233T>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1410189595 | 79 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163505C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163505C>G Locations: - p.Pro79Ala (Ensembl:ENST00000520605) - c.235C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1410189595 | 79 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163505C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163505C>A Locations: - p.Pro79Thr (Ensembl:ENST00000520605) - c.235C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
CA370537838 RCV000622406 RCV003446272 rs1554476282 | 80 | S>R | Surfactant metabolism dysfunction, pulmonary, 2 (ClinVar) Inborn genetic diseases (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163508A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163508A>C Locations: - p.Ser80Arg (Ensembl:ENST00000520605) - c.238A>C (Ensembl:ENST00000520605) Disease association: - Inborn genetic diseases - Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2) Source type: large scale study Cross-references: | |||||||
COSV59345414 | 81 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163511C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163511C>A Locations: - p.Leu81Ile (cosmic curated:ENST00000520605) - c.241C>A (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV59346339 | 82 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163516G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163516G>T Locations: - p.Glu82Asp (cosmic curated:ENST00000520605) - c.246G>T (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV105876854 | 82 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163514G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163514G>A Locations: - p.Glu82Lys (cosmic curated:ENST00000520605) - c.244G>A (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827860395 | 83 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.39) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.22163517G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163517G>A Locations: - p.Ala83Thr (Ensembl:ENST00000520605) - c.247G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs748954723 | 83 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.22163518C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163518C>T Locations: - p.Ala83Val (Ensembl:ENST00000520605) - c.248C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
RCV000855403 rs1586422320 | 84 | L>H | Surfactant metabolism dysfunction, pulmonary, 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163521T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163521T>A Locations: - p.Leu84His (Ensembl:ENST00000520605) - c.251T>A (Ensembl:ENST00000520605) Disease association: - Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2) Source type: large scale study | |||||||
COSV59346381 | 84 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163520C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163520C>G Locations: - p.Leu84Val (cosmic curated:ENST00000520605) - c.250C>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs4715 | 85 | T>I | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.22163524C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163524C>T Locations: - p.Thr85Ile (Ensembl:ENST00000520605) - c.254C>T (Ensembl:ENST00000520605) Source type: large scale study | |||||||
CA370537900 RCV000518943 rs1554476290 | 86 | R>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.22163528A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163528A>C Locations: - p.Arg86Ser (Ensembl:ENST00000520605) - c.258A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1277236785 | 89 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.22163537C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163537C>G Locations: - p.His89Gln (Ensembl:ENST00000520605) - c.267C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
COSV100109765 | 90 | N>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.22163538A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.22163538A>G Locations: - p.Asn90Asp (cosmic curated:ENST00000520605) - c.268A>G (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs745419854 | 92 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22163544C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163544C>T Locations: - p.Gln92Ter (Ensembl:ENST00000520605) - c.274C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827939771 | 93 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.22164266G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164266G>C Locations: - p.Gly93Arg (Ensembl:ENST00000520605) - c.277G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1014653401 | 94 | Q>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000008.11:g.22164270A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164270A>T Locations: - p.Gln94Leu (Ensembl:ENST00000520605) - c.281A>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1804453 | 96 | K>E | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.22164275A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164275A>G Locations: - p.Lys96Glu (Ensembl:ENST00000520605) - c.286A>G (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs1214855842 | 97 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000008.11:g.22164278C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164278C>G Locations: - p.Pro97Ala (Ensembl:ENST00000520605) - c.289C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1466050048 | 98 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22164281C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164281C>T Locations: - p.Gln98Ter (Ensembl:ENST00000520605) - c.292C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs75518353 | 98 | Q>H | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.857) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.22164283A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164283A>C Locations: - p.Gln98His (Ensembl:ENST00000520605) - c.294A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1252546891 | 99 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000008.11:g.22164284C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164284C>G Locations: - p.Arg99Gly (Ensembl:ENST00000520605) - c.295C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs543423602 | 100 | E>* | 1000Genomes TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22164287G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164287G>T Locations: - p.Glu100Ter (Ensembl:ENST00000520605) - c.298G>T (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs2131823570 | 102 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.22164294A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164294A>C Locations: - p.Lys102Thr (Ensembl:ENST00000520605) - c.305A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827941778 | 103 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000008.11:g.22164296C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164296C>G Locations: - p.Arg103Gly (Ensembl:ENST00000520605) - c.307C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs997306265 | 103 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000008.11:g.22164297G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164297G>T Locations: - p.Arg103Leu (Ensembl:ENST00000520605) - c.308G>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827942270 | 104 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000008.11:g.22164300C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164300C>G Locations: - p.Pro104Arg (Ensembl:ENST00000520605) - c.311C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1424092188 | 104 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.22164299C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164299C>A Locations: - p.Pro104Thr (Ensembl:ENST00000520605) - c.310C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs748654127 | 105 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.22164302G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164302G>A Locations: - p.Gly105Arg (Ensembl:ENST00000520605) - c.313G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1157500123 | 106 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000008.11:g.22164305C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164305C>G Locations: - p.Gln106Glu (Ensembl:ENST00000520605) - c.316C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1157500123 | 106 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000008.11:g.22164305C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164305C>A Locations: - p.Gln106Lys (Ensembl:ENST00000520605) - c.316C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1586425110 | 106 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000008.11:g.22164306A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164306A>G Locations: - p.Gln106Arg (Ensembl:ENST00000520605) - c.317A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1326074794 | 107 | R>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.22164309G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164309G>T Locations: - p.Arg107Met (Ensembl:ENST00000520605) - c.320G>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1391332711 | 107 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000008.11:g.22164310G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164310G>C Locations: - p.Arg107Ser (Ensembl:ENST00000520605) - c.321G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1326074794 | 107 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.22164309G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164309G>C Locations: - p.Arg107Thr (Ensembl:ENST00000520605) - c.320G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1586425136 | 108 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.22164311G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164311G>A Locations: - p.Val108Ile (Ensembl:ENST00000520605) - c.322G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1406859604 | 110 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164318G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164318G>A Locations: - p.Cys110Tyr (Ensembl:ENST00000520605) - c.329G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827943899 | 111 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000008.11:g.22164321G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164321G>A Locations: - p.Ser111Asn (Ensembl:ENST00000520605) - c.332G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1320821604 | 112 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.98) Somatic: No Accession: NC_000008.11:g.22164323T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164323T>C Locations: - p.Phe112Leu (Ensembl:ENST00000520605) - c.334T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827944224 | 112 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.22164324T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164324T>C Locations: - p.Phe112Ser (Ensembl:ENST00000520605) - c.335T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1393256438 | 113 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.22164326T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164326T>C Locations: - p.Cys113Arg (Ensembl:ENST00000520605) - c.337T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1433758234 | 114 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22164329A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164329A>T Locations: - p.Arg114Ter (Ensembl:ENST00000520605) - c.340A>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1276072750 | 115 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164332C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164332C>G Locations: - p.Arg115Gly (Ensembl:ENST00000520605) - c.343C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1368276088 | 115 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000008.11:g.22164333G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164333G>A Locations: - p.Arg115Gln (Ensembl:ENST00000520605) - c.344G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1276072750 | 115 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.22164332C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164332C>T Locations: - p.Arg115Trp (Ensembl:ENST00000520605) - c.343C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
VAR_026754 CA210542 RCV000014099 rs121918559 | 116 | A>D | SMDP2 (UniProt) Surfactant metabolism dysfunction, pulmonary, 2 (smdp2) (Ensembl) Surfactant metabolism dysfunction, pulmonary, 2 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000008.11:g.22163458C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163458C>A Locations: - p.Ala116Asp (UniProt:P11686) - p.Ala63Asp (Ensembl:ENST00000520605) - c.188C>A (Ensembl:ENST00000520605) Disease association: - Pulmonary surfactant metabolism dysfunction 2 (SMDP2) - Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2) Source type: mixed Cross-references: | |||||||
rs866359634 | 116 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000008.11:g.22164335G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164335G>A Locations: - p.Ala116Thr (Ensembl:ENST00000520605) - c.346G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827945253 | 117 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000008.11:g.22164339G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164339G>A Locations: - p.Arg117Lys (Ensembl:ENST00000520605) - c.350G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827945412 | 119 | C>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22164341_22164344dup Codon: AGCTGC/AGCTAGCTGC Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164341_22164344dup Locations: - p.Cys119Ter (Ensembl:ENST00000520605) - c.352_355dup (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1272862587 | 122 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000008.11:g.22164353C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164353C>T Locations: - p.Pro122Ser (Ensembl:ENST00000520605) - c.364C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1272862587 | 122 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000008.11:g.22164353C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164353C>A Locations: - p.Pro122Thr (Ensembl:ENST00000520605) - c.364C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1425079286 | 123 | H>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000008.11:g.22164357A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164357A>C Locations: - p.His123Pro (Ensembl:ENST00000520605) - c.368A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs565381858 | 123 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000008.11:g.22164358C>A, NC_000008.11:g.22164358C>G Codon: CAC/CAA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164358C>A, NC_000008.11:g.22164358C>G Locations: - p.His123Gln (Ensembl:ENST00000520605) - c.369C>A (Ensembl:ENST00000520605) - c.369C>G (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs562115512 | 124 | R>C | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.22164359C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164359C>T Locations: - p.Arg124Cys (Ensembl:ENST00000520605) - c.370C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs562115512 | 124 | R>G | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000008.11:g.22164359C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164359C>G Locations: - p.Arg124Gly (Ensembl:ENST00000520605) - c.370C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1246904396 | 124 | R>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000008.11:g.22164360G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164360G>C Locations: - p.Arg124Pro (Ensembl:ENST00000520605) - c.371G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs953567343 | 126 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000008.11:g.22164367C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164367C>G Locations: - p.Asp126Glu (Ensembl:ENST00000520605) - c.378C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1180657872 | 128 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.22164371C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164371C>A Locations: - p.Pro128Thr (Ensembl:ENST00000520605) - c.382C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs749681094 | 129 | W>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22164376G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164376G>A Locations: - p.Trp129Ter (Ensembl:ENST00000520605) - c.387G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1414754284 | 129 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22164375G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164375G>A Locations: - p.Trp129Ter (Ensembl:ENST00000520605) - c.386G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1473154489 | 130 | R>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164378G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164378G>T Locations: - p.Arg130Ile (Ensembl:ENST00000520605) - c.389G>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1473154489 | 130 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000008.11:g.22164378G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164378G>A Locations: - p.Arg130Lys (Ensembl:ENST00000520605) - c.389G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1164652089 | 131 | N>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.22164380A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164380A>T Locations: - p.Asn131Tyr (Ensembl:ENST00000520605) - c.391A>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827949486 | 132 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164383G>A, NC_000008.11:g.22164383G>C Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164383G>A, NC_000008.11:g.22164383G>C Locations: - p.Gly132Arg (Ensembl:ENST00000520605) - c.394G>A (Ensembl:ENST00000520605) - c.394G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs541769233 | 133 | S>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000008.11:g.22164386A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164386A>G Locations: - p.Ser133Gly (Ensembl:ENST00000520605) - c.397A>G (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs1827950200 | 135 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.22164392G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164392G>A Locations: - p.Gly135Arg (Ensembl:ENST00000520605) - c.403G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1021895527 | 137 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164399G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164399G>T Locations: - p.Gly137Val (Ensembl:ENST00000520605) - c.410G>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1586425416 COSV100110285 | 138 | W>* | Ensembl cosmic curated | ||||
Consequence: stop gained Somatic: Yes Accession: NC_000008.11:g.22164402G>A, NC_000008.11:g.22164403G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164402G>A, NC_000008.11:g.22164403G>A Locations: - p.Trp138Ter (Ensembl:ENST00000520605) - c.413G>A (Ensembl:ENST00000520605) - p.Trp138Ter (cosmic curated:ENST00000520605) - c.414G>A (cosmic curated:ENST00000520605) Source type: large scale study Cross-references: | |||||||
VAR_007453 CA177956 COSV59345520 RCV000151856 RCV000289134 RCV000311252 RCV000387624 RCV001160261 RCV001618306 RCV002326871 rs4715 | 138 | T>N | Hereditary pulmonary alveolar proteinosis (ClinVar) Osteogenesis Imperfecta, Recessive (ClinVar) Pulmonary Surfactant Metabolism Dysfunction, Dominant (ClinVar) Surfactant metabolism dysfunction, pulmonary, 2 (ClinVar) Interstitial lung disease 2 (ClinVar) | Benign (Ensembl, ClinVar) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.19748 (ClinVar) Accession: NC_000008.11:g.22163524C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22163524C>A Locations: - p.Thr138Asn (UniProt:P11686) - p.Thr85Asn (Ensembl:ENST00000520605) - c.254C>A (Ensembl:ENST00000520605) Disease association: - Hereditary pulmonary alveolar proteinosis - Interstitial lung disease 2 (ILD2) - Osteogenesis Imperfecta, Recessive - Pulmonary Surfactant Metabolism Dysfunction, Dominant - Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2) Source type: mixed Cross-references: | |||||||
rs1275632800 | 139 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22164404G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164404G>T Locations: - p.Glu139Ter (Ensembl:ENST00000520605) - c.415G>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1275632800 | 139 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000008.11:g.22164404G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164404G>A Locations: - p.Glu139Lys (Ensembl:ENST00000520605) - c.415G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1275632800 | 139 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000008.11:g.22164404G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164404G>C Locations: - p.Glu139Gln (Ensembl:ENST00000520605) - c.415G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1440744299 | 140 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.22164408G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164408G>A Locations: - p.Trp140Ter (Ensembl:ENST00000520605) - c.419G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs974178291 | 140 | W>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000008.11:g.22164407T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164407T>G Locations: - p.Trp140Gly (Ensembl:ENST00000520605) - c.418T>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs974178291 | 140 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000008.11:g.22164407T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164407T>C Locations: - p.Trp140Arg (Ensembl:ENST00000520605) - c.418T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1306168899 | 141 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.22164411C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164411C>T Locations: - p.Ala141Val (Ensembl:ENST00000520605) - c.422C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1586425457 | 142 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164414A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164414A>G Locations: - p.Glu142Gly (Ensembl:ENST00000520605) - c.425A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1827951901 | 142 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000008.11:g.22164413G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164413G>A Locations: - p.Glu142Lys (Ensembl:ENST00000520605) - c.424G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1126931 | 144 | A>E | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.22164420C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164420C>A Locations: - p.Ala144Glu (Ensembl:ENST00000520605) - c.431C>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs1126931 | 144 | A>G | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000008.11:g.22164420C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164420C>G Locations: - p.Ala144Gly (Ensembl:ENST00000520605) - c.431C>G (Ensembl:ENST00000520605) Source type: large scale study | |||||||
COSV59243999 rs1126931 | 144 | A>V | Benign (Ensembl) | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.25) Somatic: Yes Accession: NC_000008.11:g.22164420C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164420C>T Locations: - p.Ala144Val (Ensembl:ENST00000520605) - c.431C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1000587425 | 145 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.22164423C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164423C>T Locations: - p.Pro145Leu (Ensembl:ENST00000520605) - c.434C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1353936839 | 145 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.22164422C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164422C>T Locations: - p.Pro145Ser (Ensembl:ENST00000520605) - c.433C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs985200967 | 146 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000008.11:g.22164425A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164425A>G Locations: - p.Arg146Gly (Ensembl:ENST00000520605) - c.436A>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs8192331 | 147 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000008.11:g.22164429G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164429G>C Locations: - p.Gly147Ala (Ensembl:ENST00000520605) - c.440G>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs763580777 | 147 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.22164428G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164428G>A Locations: - p.Gly147Ser (Ensembl:ENST00000520605) - c.439G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs8192331 | 147 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164429G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164429G>T Locations: - p.Gly147Val (Ensembl:ENST00000520605) - c.440G>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1254671649 | 148 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.82) Somatic: No Accession: NC_000008.11:g.22164432C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164432C>G Locations: - p.Pro148Arg (Ensembl:ENST00000520605) - c.443C>G (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1173916668 | 149 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164435G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164435G>A Locations: - p.Gly149Glu (Ensembl:ENST00000520605) - c.446G>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs912412873 | 150 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.22164437A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164437A>C Locations: - p.Thr150Pro (Ensembl:ENST00000520605) - c.448A>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs886062816 | 151 | P>T | Variant of uncertain significance (Ensembl) | 1000Genomes TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.22164440C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164440C>A Locations: - p.Pro151Thr (Ensembl:ENST00000520605) - c.451C>A (Ensembl:ENST00000520605) Source type: large scale study | |||||||
rs1473954879 | 152 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.22164444C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164444C>A Locations: - p.Ala152Asp (Ensembl:ENST00000520605) - c.455C>A (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1413995109 | 154 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.22164450C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164450C>T Locations: - p.Thr154Ile (Ensembl:ENST00000520605) - c.461C>T (Ensembl:ENST00000520605) Source type: large scale study Cross-references: | |||||||
rs1166140370 | 156 | *>Q | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000008.11:g.22164455T>C Codon: TAA/CAA Consequence type: stop lost Cytogenetic band: 8p21.3 Genomic location: NC_000008.11:g.22164455T>C Locations: - p.Ter156GlnextTer? (Ensembl:ENST00000520605) - c.466T>C (Ensembl:ENST00000520605) Source type: large scale study Cross-references: |