Variant #0000085365 (NC_000001.10:g.228345602C>T, GJC2(NM_020435.3):c.143C>T)

Individual ID 00055391
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.228345602C>T
DNA change (hg38) g.228157901C>T
Published as -
ISCN -
DB-ID GJC2_000024 See all 2 reported entries
Variant remarks -
Reference PubMed: Ferrell 2010, OMIM:var0009
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJC2 NM_020435.3 +/. 2 c.143C>T r.(?) p.(Ser48Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055344 DNA SEQ - - GJC2 1 Michel van Geel