Variant #0000096841 (NC_000013.10:g.20717252G>A, GJA3(NM_021954.3):c.176C>T)

Individual ID 00065043
Chromosome 13
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.20717252G>A
DNA change (hg38) g.20143113G>A
Published as -
ISCN -
DB-ID GJA3_000003
Variant remarks -
Reference PubMed: Gillespie 2014, Journal: Gillespie 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJA3 NM_021954.3 +/. 2 c.176C>T r.(?) p.(Pro59Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065185 DNA SEQ;SEQ-NG - - GJA3 1 Johan den Dunnen