Variant #0000277308 (NC_000001.10:g.228346300C>T, GJC2(NM_020435.3):c.841C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.228346300C>T
DNA change (hg38) g.228158599C>T
Published as GJC2(NM_020435.3):c.841C>T (p.L281F)
ISCN -
DB-ID GJC2_000034
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJC2 NM_020435.3 ?/. - c.841C>T r.(?) p.(Leu281Phe)