chr6:121446966:C>T Detail (hg38) (GJA1)

Information

Genome

Assembly Position
hg19 chr6:121,768,112-121,768,112 View the variant detail on this assembly version.
hg38 chr6:121,446,966-121,446,966

HGVS

Type Transcript Protein
RefSeq NM_000165.4:c.119C>T NP_000156.1:p.Ala40Val
Ensemble ENST00000282561.4:c.119C>T ENST00000282561.4:p.Ala40Val
ENST00000647564.1:c.119C>T ENST00000647564.1:p.Ala40Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 121014 OMIM
HGNC 4274 HGNC
Ensembl ENSG00000152661 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-01-28 criteria provided, single submitter oculodentodigital dysplasia germline Detail
Pathogenic 2021-07-09 criteria provided, single submitter erythrokeratodermia variabilis et progressiva 3,Craniometaphyseal dysplasia, autosomal recessive,syndactyly type 3,Hypoplastic left heart syndrome 1,oculodentodigital dysplasia,Oculodentodigital dysplasia, autosomal recessive,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Atrioventricular septal defect and common atrioventricular junction unknown Detail
Pathogenic 2021-07-09 criteria provided, single submitter erythrokeratodermia variabilis et progressiva 3,Craniometaphyseal dysplasia, autosomal recessive,syndactyly type 3,Hypoplastic left heart syndrome 1,oculodentodigital dysplasia,Oculodentodigital dysplasia, autosomal recessive,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Atrioventricular septal defect and common atrioventricular junction unknown Detail
Pathogenic 2021-07-09 criteria provided, single submitter erythrokeratodermia variabilis et progressiva 3,Craniometaphyseal dysplasia, autosomal recessive,syndactyly type 3,Hypoplastic left heart syndrome 1,oculodentodigital dysplasia,Oculodentodigital dysplasia, autosomal recessive,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Atrioventricular septal defect and common atrioventricular junction unknown Detail
Pathogenic 2021-07-09 criteria provided, single submitter erythrokeratodermia variabilis et progressiva 3,Craniometaphyseal dysplasia, autosomal recessive,syndactyly type 3,Hypoplastic left heart syndrome 1,oculodentodigital dysplasia,Oculodentodigital dysplasia, autosomal recessive,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Atrioventricular septal defect and common atrioventricular junction unknown Detail
Pathogenic 2021-07-09 criteria provided, single submitter erythrokeratodermia variabilis et progressiva 3,Craniometaphyseal dysplasia, autosomal recessive,syndactyly type 3,Hypoplastic left heart syndrome 1,oculodentodigital dysplasia,Oculodentodigital dysplasia, autosomal recessive,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Atrioventricular septal defect and common atrioventricular junction unknown Detail
Pathogenic 2021-07-09 criteria provided, single submitter erythrokeratodermia variabilis et progressiva 3,Craniometaphyseal dysplasia, autosomal recessive,syndactyly type 3,Hypoplastic left heart syndrome 1,oculodentodigital dysplasia,Oculodentodigital dysplasia, autosomal recessive,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Atrioventricular septal defect and common atrioventricular junction unknown Detail
Pathogenic 2021-07-09 criteria provided, single submitter erythrokeratodermia variabilis et progressiva 3,Craniometaphyseal dysplasia, autosomal recessive,syndactyly type 3,Hypoplastic left heart syndrome 1,oculodentodigital dysplasia,Oculodentodigital dysplasia, autosomal recessive,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Atrioventricular septal defect and common atrioventricular junction unknown Detail
Pathogenic 2021-07-09 criteria provided, single submitter erythrokeratodermia variabilis et progressiva 3,Craniometaphyseal dysplasia, autosomal recessive,syndactyly type 3,Hypoplastic left heart syndrome 1,oculodentodigital dysplasia,Oculodentodigital dysplasia, autosomal recessive,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Atrioventricular septal defect and common atrioventricular junction unknown Detail
Pathogenic 2023-12-06 criteria provided, single submitter Oculodentodigital dysplasia, autosomal recessive germline Detail
Pathogenic 2023-05-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND Oculodentodigital dysplasia ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND multiple conditions ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND Oculodentodigital dysplasia, autosomal recessive ClinVar Detail
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) AND not provided ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1554200992 dbSNP
Genome
hg38
Position
chr6:121,446,966-121,446,966
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser