Variant #0000085348 (NC_000001.10:g.228346154_228346155insG, GJC2(NM_020435.3):c.695_696insG)

Individual ID 00055374
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.228346154_228346155insG
DNA change (hg38) g.228158453_228158454insG
Published as -
ISCN -
DB-ID GJC2_000015 See all 4 reported entries
Variant remarks -
Reference PubMed: Henneke 2008, OMIM:var0007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
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.695_696insG r.(?) p.(fs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055327 DNA SEQ - - GJC2 2 Michel van Geel