H3BQW4 · H3BQW4_HUMAN
- ProteinAdhesion G protein-coupled receptor G1
- GeneADGRG1
- 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 | ||
---|---|---|---|---|---|---|---|
rs1211862342 | 2 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.57650292C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650292C>T Locations: - p.Thr2Ile (Ensembl:ENST00000564729) - c.5C>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2148182582 | 3 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.57650294C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650294C>G Locations: - p.Pro3Ala (Ensembl:ENST00000564729) - c.7C>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
CA274490 RCV000169661 rs786204777 | 4 | Q>* | Bilateral frontoparietal polymicrogyria (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.57650297C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650297C>T Locations: - p.Gln4Ter (Ensembl:ENST00000564729) - c.10C>T (Ensembl:ENST00000564729) Disease association: - Bilateral frontoparietal polymicrogyria Source type: large scale study Cross-references: | |||||||
rs1198610537 | 4 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.57650298A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650298A>C Locations: - p.Gln4Pro (Ensembl:ENST00000564729) - c.11A>C (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
COSV65635721 RCV000711839 RCV001116136 RCV004026814 rs147879224 | 5 | S>L | Bilateral frontoparietal polymicrogyria (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: Yes Population frequencies: - MAF: 0.00015 (ClinVar) Accession: NC_000016.10:g.57650301C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650301C>T Locations: - p.Ser5Leu (Ensembl:ENST00000564729) - c.14C>T (Ensembl:ENST00000564729) Disease association: - Bilateral frontoparietal polymicrogyria - Inborn genetic diseases Source type: large scale study | |||||||
rs1901493150 | 8 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.57650310A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650310A>C Locations: - p.Gln8Pro (Ensembl:ENST00000564729) - c.23A>C (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
RCV000711842 RCV000765300 RCV001117564 rs200241873 | 9 | T>M | Bilateral frontoparietal polymicrogyria (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.63) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000016.10:g.57650313C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650313C>T Locations: - p.Thr9Met (Ensembl:ENST00000564729) - c.26C>T (Ensembl:ENST00000564729) Disease association: - Bilateral frontoparietal polymicrogyria - Polymicrogyria, bilateral perisylvian, autosomal recessive (CDCBM14B) Source type: large scale study | |||||||
rs2043723048 | 12 | F>L | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.57650323C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650323C>G Locations: - p.Phe12Leu (Ensembl:ENST00000564729) - c.36C>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2043723832 | 14 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.57650327C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650327C>A Locations: - p.Leu14Met (Ensembl:ENST00000564729) - c.40C>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
RCV001765070 rs1417033167 | 14 | L>P | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.57650328T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650328T>C Locations: - p.Leu14Pro (Ensembl:ENST00000564729) - c.41T>C (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs765432109 | 15 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000016.10:g.57650330A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650330A>T Locations: - p.Ser15Cys (Ensembl:ENST00000564729) - c.43A>T (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs144515150 | 15 | S>N | 1000Genomes ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.57650331G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650331G>A Locations: - p.Ser15Asn (Ensembl:ENST00000564729) - c.44G>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs144515150 | 15 | S>T | 1000Genomes ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000016.10:g.57650331G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650331G>C Locations: - p.Ser15Thr (Ensembl:ENST00000564729) - c.44G>C (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs758339590 | 21 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.57650348C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57650348C>A Locations: - p.Gln21Lys (Ensembl:ENST00000564729) - c.61C>A (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs778731862 | 22 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651200G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651200G>A Locations: - p.Gly22Asp (Ensembl:ENST00000564729) - c.65G>A (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs1252437755 | 23 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.305) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.57651203C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651203C>A Locations: - p.Ala23Asp (Ensembl:ENST00000564729) - c.68C>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs1252437755 | 23 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.57651203C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651203C>G Locations: - p.Ala23Gly (Ensembl:ENST00000564729) - c.68C>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs1472183013 | 23 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000016.10:g.57651202G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651202G>A Locations: - p.Ala23Thr (Ensembl:ENST00000564729) - c.67G>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs771722143 | 24 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.57651206A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651206A>C Locations: - p.His24Pro (Ensembl:ENST00000564729) - c.71A>C (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs771722143 | 24 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000016.10:g.57651206A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651206A>G Locations: - p.His24Arg (Ensembl:ENST00000564729) - c.71A>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2044000648 | 24 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.57651205C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651205C>T Locations: - p.His24Tyr (Ensembl:ENST00000564729) - c.70C>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
COSV65636176 rs746514384 | 25 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.00000796 (gnomAD) Accession: NC_000016.10:g.57651208G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651208G>A Locations: - p.G25S (NCI-TCGA:ENST00000564729) - p.Gly25Ser (Ensembl:ENST00000564729) - c.73G>A (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs2044003168 | 27 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.57651215G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651215G>T Locations: - p.Gly27Val (Ensembl:ENST00000564729) - c.80G>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs1375167183 | 28 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.57651217C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651217C>T Locations: - p.His28Tyr (Ensembl:ENST00000564729) - c.82C>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2044004751 | 29 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.57651220A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651220A>G Locations: - p.Arg29Gly (Ensembl:ENST00000564729) - c.85A>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2044005813 | 30 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651223G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651223G>A Locations: - p.Glu30Lys (Ensembl:ENST00000564729) - c.88G>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs1331337228 | 32 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651230T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651230T>G Locations: - p.Phe32Cys (Ensembl:ENST00000564729) - c.95T>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
CA8078287 COSV65635964 RCV000395102 RCV001117566 RCV002518977 rs776480483 | 33 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Bilateral frontoparietal polymicrogyria (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.00007556 (gnomAD) - MAF: 0.00012 (ClinVar) Accession: NC_000016.10:g.57651232C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651232C>T Locations: - p.R33C (NCI-TCGA:ENST00000564729) - p.Arg33Cys (Ensembl:ENST00000564729) - c.97C>T (Ensembl:ENST00000564729) Disease association: - Bilateral frontoparietal polymicrogyria - Inborn genetic diseases Source type: large scale study | |||||||
CM093540 COSV108224469 rs759353835 | 33 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00007954 (gnomAD) Accession: NC_000016.10:g.57651233G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651233G>A Locations: - p.R33H (NCI-TCGA:ENST00000564729) - p.Arg33His (Ensembl:ENST00000564729) - c.98G>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: - NCI-TCGA: CM093540 | |||||||
rs759353835 | 33 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651233G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651233G>T Locations: - p.Arg33Leu (Ensembl:ENST00000564729) - c.98G>T (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs776480483 | 33 | R>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.57651232C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651232C>A Locations: - p.Arg33Ser (Ensembl:ENST00000564729) - c.97C>A (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs769527143 | 37 | Q>* | ExAC gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.57651244C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651244C>T Locations: - p.Gln37Ter (Ensembl:ENST00000564729) - c.109C>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2044009612 | 37 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.396) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651245A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651245A>G Locations: - p.Gln37Arg (Ensembl:ENST00000564729) - c.110A>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
VAR_069581 CM053914 COSV65636439 RCV001069769 rs764367185 | 38 | R>Q | CDCBM14A; abolishes interaction with COL3A1 (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.06) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.57651248G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651248G>A Locations: - p.R38Q (NCI-TCGA:ENST00000564729) - p.Arg38Gln (UniProt:Q9Y653) - p.Arg38Gln (Ensembl:ENST00000564729) - c.113G>A (Ensembl:ENST00000564729) Disease association: - Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) Source type: mixed Cross-references: - NCI-TCGA: CM053914 | |||||||
VAR_026242 CA253607 RCV000006185 RCV001813956 RCV003565380 RCV004018573 rs121908462 | 38 | R>W | CDCBM14A; abolishes interaction with COL3A1; reduces cell surface localization (UniProt) Bilateral frontoparietal polymicrogyria (ClinVar) Inborn genetic diseases (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000016.10:g.57651247C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651247C>T Locations: - p.Arg38Trp (UniProt:Q9Y653) - p.Arg38Trp (Ensembl:ENST00000564729) - c.112C>T (Ensembl:ENST00000564729) Disease association: - Bilateral frontoparietal polymicrogyria - Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) - Inborn genetic diseases Source type: mixed | |||||||
rs2044013519 | 40 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651253C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651253C>A Locations: - p.Gln40Lys (Ensembl:ENST00000564729) - c.118C>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2044014253 | 41 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651257C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651257C>T Locations: - p.Thr41Ile (Ensembl:ENST00000564729) - c.122C>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs1273531531 | 42 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.57651261C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651261C>A Locations: - p.His42Gln (Ensembl:ENST00000564729) - c.126C>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2044015314 | 43 | R>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.57651263G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651263G>T Locations: - p.Arg43Met (Ensembl:ENST00000564729) - c.128G>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs1437152190 | 43 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000016.10:g.57651264G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651264G>T Locations: - p.Arg43Ser (Ensembl:ENST00000564729) - c.129G>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs750914647 | 46 | L>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651272T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651272T>A Locations: - p.Leu46His (Ensembl:ENST00000564729) - c.137T>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs2044020093 | 47 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000016.10:g.57651276C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651276C>A Locations: - p.His47Gln (Ensembl:ENST00000564729) - c.141C>A (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs756669562 | 47 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000016.10:g.57651275A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651275A>G Locations: - p.His47Arg (Ensembl:ENST00000564729) - c.140A>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
RCV001926282 rs2044021734 | 49 | K>E | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.94) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000016.10:g.57651280A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651280A>G Locations: - p.Lys49Glu (Ensembl:ENST00000564729) - c.145A>G (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs2044022551 | 51 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.57651287C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651287C>T Locations: - p.Thr51Ile (Ensembl:ENST00000564729) - c.152C>T (Ensembl:ENST00000564729) Source type: large scale study Cross-references: | |||||||
rs754223248 | 52 | P>S | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.57651289C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651289C>T Locations: - p.Pro52Ser (Ensembl:ENST00000564729) - c.154C>T (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs754223248 | 52 | P>T | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000016.10:g.57651289C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651289C>A Locations: - p.Pro52Thr (Ensembl:ENST00000564729) - c.154C>A (Ensembl:ENST00000564729) Source type: large scale study | |||||||
RCV001316588 RCV001835571 rs758040938 | 53 | D>H | Bilateral frontoparietal polymicrogyria (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000016.10:g.57651292G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651292G>C Locations: - p.Asp53His (Ensembl:ENST00000564729) - c.157G>C (Ensembl:ENST00000564729) Disease association: - Bilateral frontoparietal polymicrogyria Source type: large scale study Cross-references: | |||||||
rs368183296 | 54 | L>Q | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.57651296T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651296T>A Locations: - p.Leu54Gln (Ensembl:ENST00000564729) - c.161T>A (Ensembl:ENST00000564729) Source type: large scale study | |||||||
rs777421844 | 54 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.57651295C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16q21 Genomic location: NC_000016.10:g.57651295C>G Locations: - p.Leu54Val (Ensembl:ENST00000564729) - c.160C>G (Ensembl:ENST00000564729) Source type: large scale study Cross-references: |