Variant #0000085344 (NC_000001.10:g.228346177C>T, GJC2(NM_020435.3):c.718C>T)

Individual ID 00055370
Chromosome 1
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.228346177C>T
DNA change (hg38) g.228158476C>T
Published as -
ISCN -
DB-ID GJC2_000003 See all 3 reported entries
Variant remarks -
Reference PubMed: Uhlenberg 2004, OMIM:var0004
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.718C>T r.(?) p.(Arg240*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055323 DNA SEQ - - GJC2 2 Michel van Geel