Variant #0000086021 (NC_000001.10:g.228346373_228346406del, GJC2(NM_020435.3):c.914_947del)

Individual ID 00055371
Chromosome 1
Allele Parent #2
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.228346373_228346406del
DNA change (hg38) g.228158672_228158705del
Published as -
ISCN -
DB-ID GJC2_000006 See all 4 reported entries
Variant remarks -
Reference PubMed: Wolf 2007, OMIM:var0006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Michel van Geel
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Michel van Geel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJC2 NM_020435.3 +/. 2 c.914_947del r.(?) p.(fs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055324 DNA SEQ - - GJC2 2 Michel van Geel