Variant #0000505771 (NC_000001.10:g.228346486G>T, GJC2(NM_020435.3):c.1027G>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.228346486G>T
DNA change (hg38) g.228158785G>T
Published as GJC2(NM_020435.3):c.1027G>T (p.(Ala343Ser)), GJC2(NM_020435.4):c.1027G>T (p.A343S)
ISCN -
DB-ID GJC2_000052 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJC2 NM_020435.3 -?/. - c.1027G>T r.(?) p.(Ala343Ser)