M0R105 · M0R105_HUMAN
- ProteinSPT5 homolog, DSIF elongation factor subunit
- GeneSUPT5H
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs761207333 | 3 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445897G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445897G>C Locations: - p.Asp3His (Ensembl:ENST00000594990) - c.7G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs981927911 | 4 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445901G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445901G>A Locations: - p.Ser4Asn (Ensembl:ENST00000594990) - c.11G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1461880933 | 5 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445904A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445904A>C Locations: - p.Glu5Ala (Ensembl:ENST00000594990) - c.14A>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1166907346 | 6 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445908C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445908C>G Locations: - p.Asp6Glu (Ensembl:ENST00000594990) - c.18C>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs2078947015 | 8 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445912A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445912A>G Locations: - p.Asn8Asp (Ensembl:ENST00000594990) - c.22A>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1452490638 | 9 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445915T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445915T>G Locations: - p.Phe9Val (Ensembl:ENST00000594990) - c.25T>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1600688108 | 11 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445922A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445922A>C Locations: - p.Glu11Ala (Ensembl:ENST00000594990) - c.32A>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1342026938 | 13 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445929G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445929G>C Locations: - p.Glu13Asp (Ensembl:ENST00000594990) - c.39G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs2078947370 | 13 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445928A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445928A>G Locations: - p.Glu13Gly (Ensembl:ENST00000594990) - c.38A>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1302397379 | 13 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445927G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445927G>A Locations: - p.Glu13Lys (Ensembl:ENST00000594990) - c.37G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs938297493 | 14 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445930G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445930G>A Locations: - p.Asp14Asn (Ensembl:ENST00000594990) - c.40G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs754205658 | 16 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445937A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445937A>G Locations: - p.Glu16Gly (Ensembl:ENST00000594990) - c.47A>G (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs1568415160 | 17 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445939C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445939C>G Locations: - p.Arg17Gly (Ensembl:ENST00000594990) - c.49C>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1297498578 | 17 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445940G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445940G>A Locations: - p.Arg17His (Ensembl:ENST00000594990) - c.50G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs578023322 | 21 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445951G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445951G>A Locations: - p.Gly21Ser (Ensembl:ENST00000594990) - c.61G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1055319121 | 23 | E>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445959G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445959G>C Locations: - p.Glu23Asp (Ensembl:ENST00000594990) - c.69G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1346684271 | 23 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445958A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445958A>G Locations: - p.Glu23Gly (Ensembl:ENST00000594990) - c.68A>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs938748895 | 23 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445957G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445957G>A Locations: - p.Glu23Lys (Ensembl:ENST00000594990) - c.67G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs778971841 | 24 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445961C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445961C>G Locations: - p.Ala24Gly (Ensembl:ENST00000594990) - c.71C>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1316361003 | 24 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445960G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445960G>T Locations: - p.Ala24Ser (Ensembl:ENST00000594990) - c.70G>T (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1316361003 | 24 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39445960G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39445960G>A Locations: - p.Ala24Thr (Ensembl:ENST00000594990) - c.70G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs2076076256 | 26 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453357T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453357T>C Locations: - p.Val26Ala (Ensembl:ENST00000594990) - c.77T>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs200510680 | 27 | D>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000019.10:g.39453361C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453361C>G Locations: - p.Asp27Glu (Ensembl:ENST00000594990) - c.81C>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs758576184 | 27 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453360A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453360A>G Locations: - p.Asp27Gly (Ensembl:ENST00000594990) - c.80A>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs76377604 | 27 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453359G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453359G>A Locations: - p.Asp27Asn (Ensembl:ENST00000594990) - c.79G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs751592720 | 28 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.39453362G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453362G>T Locations: - p.Glu28Ter (Ensembl:ENST00000594990) - c.82G>T (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs751592720 | 28 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000004201 (gnomAD) Accession: NC_000019.10:g.39453362G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453362G>A Locations: - p.E28K (NCI-TCGA:ENST00000594990) - p.Glu28Lys (Ensembl:ENST00000594990) - c.82G>A (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs1396685982 | 28 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453363A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453363A>T Locations: - p.Glu28Val (Ensembl:ENST00000594990) - c.83A>T (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
COSV63240969 rs373417384 | 30 | R>Q | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.39453369G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453369G>A Locations: - p.Arg30Gln (Ensembl:ENST00000594990) - c.89G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
COSV63240896 rs757236653 | 30 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00004207 (gnomAD) Accession: NC_000019.10:g.39453368C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453368C>T Locations: - p.R30W (NCI-TCGA:ENST00000594990) - p.Arg30Trp (Ensembl:ENST00000594990) - c.88C>T (Ensembl:ENST00000594990) Source type: large scale study | |||||||
COSV63238951 rs554076163 | 31 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000019.10:g.39453372G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453372G>A Locations: - p.R31Q (NCI-TCGA:ENST00000594990) - p.Arg31Gln (Ensembl:ENST00000594990) - c.92G>A (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs755849550 | 31 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453371C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453371C>T Locations: - p.Arg31Trp (Ensembl:ENST00000594990) - c.91C>T (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs748898895 | 32 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453375G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453375G>T Locations: - p.Ser32Ile (Ensembl:ENST00000594990) - c.95G>T (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs748898895 | 32 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453375G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453375G>A Locations: - p.Ser32Asn (Ensembl:ENST00000594990) - c.95G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs768315674 | 33 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453377G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453377G>A Locations: - p.Ala33Thr (Ensembl:ENST00000594990) - c.97G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs2079044726 | 33 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453378C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453378C>T Locations: - p.Ala33Val (Ensembl:ENST00000594990) - c.98C>T (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs141419838 | 34 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453381C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453381C>T Locations: - p.Ala34Val (Ensembl:ENST00000594990) - c.101C>T (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs777261172 | 35 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453384G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453384G>A Locations: - p.Gly35Asp (Ensembl:ENST00000594990) - c.104G>A (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs771632495 | 35 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453383G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453383G>C Locations: - p.Gly35Arg (Ensembl:ENST00000594990) - c.103G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1037358573 | 36 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453386A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453386A>G Locations: - p.Ser36Gly (Ensembl:ENST00000594990) - c.106A>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
COSV63238771 rs1478797505 | 36 | S>N | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.39453387G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453387G>A Locations: - p.Ser36Asn (Ensembl:ENST00000594990) - c.107G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1163380842 | 40 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453398G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453398G>C Locations: - p.Glu40Gln (Ensembl:ENST00000594990) - c.118G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1410925219 | 41 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453403G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453403G>C Locations: - p.Glu41Asp (Ensembl:ENST00000594990) - c.123G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs775881092 | 43 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453409G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453409G>C Locations: - p.Glu43Asp (Ensembl:ENST00000594990) - c.129G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs765521614 | 43 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453407G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453407G>A Locations: - p.Glu43Lys (Ensembl:ENST00000594990) - c.127G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1568419723 | 44 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000019.10:g.39453412C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453412C>G Locations: - p.Asp44Glu (Ensembl:ENST00000594990) - c.132C>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1440179136 | 44 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453411A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453411A>G Locations: - p.Asp44Gly (Ensembl:ENST00000594990) - c.131A>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs764282082 | 45 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453415A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453415A>C Locations: - p.Glu45Asp (Ensembl:ENST00000594990) - c.135A>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
COSV63241730 rs763109965 | 45 | E>K | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.39453413G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453413G>A Locations: - p.Glu45Lys (Ensembl:ENST00000594990) - c.133G>A (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs763109965 | 45 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453413G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453413G>C Locations: - p.Glu45Gln (Ensembl:ENST00000594990) - c.133G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs751682671 | 46 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453416G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453416G>C Locations: - p.Glu46Gln (Ensembl:ENST00000594990) - c.136G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1269874745 | 47 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453421G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453421G>T Locations: - p.Glu47Asp (Ensembl:ENST00000594990) - c.141G>T (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs923821908 | 47 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453420A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453420A>G Locations: - p.Glu47Gly (Ensembl:ENST00000594990) - c.140A>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs138303744 | 48 | E>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453423A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453423A>T Locations: - p.Glu48Val (Ensembl:ENST00000594990) - c.143A>T (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs767502475 | 49 | E>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453425G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453425G>C Locations: - p.Glu49Gln (Ensembl:ENST00000594990) - c.145G>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs756015175 | 50 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453430G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453430G>C Locations: - p.Glu50Asp (Ensembl:ENST00000594990) - c.150G>C (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs750341215 | 50 | E>K | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453428G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453428G>A Locations: - p.Glu50Lys (Ensembl:ENST00000594990) - c.148G>A (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs779746190 | 51 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453433G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453433G>T Locations: - p.Glu51Asp (Ensembl:ENST00000594990) - c.153G>T (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs754624502 | 53 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453439A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453439A>C Locations: - p.Glu53Asp (Ensembl:ENST00000594990) - c.159A>C (Ensembl:ENST00000594990) Source type: large scale study | |||||||
rs1130180 | 54 | Y>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.39453442C>A, NC_000019.10:g.39453442C>G Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453442C>A, NC_000019.10:g.39453442C>G Locations: - p.Tyr54Ter (Ensembl:ENST00000594990) - c.162C>A (Ensembl:ENST00000594990) - c.162C>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1452872155 | 54 | Y>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453440T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453440T>G Locations: - p.Tyr54Asp (Ensembl:ENST00000594990) - c.160T>G (Ensembl:ENST00000594990) Source type: large scale study Cross-references: | |||||||
rs1452872155 | 54 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.39453440T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.39453440T>C Locations: - p.Tyr54His (Ensembl:ENST00000594990) - c.160T>C (Ensembl:ENST00000594990) Source type: large scale study Cross-references: |