Variant #0000505763 (NC_000001.10:g.228346066C>T, GJC2(NM_020435.3):c.607C>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.228346066C>T
DNA change (hg38) g.228158365C>T
Published as GJC2(NM_020435.3):c.607C>T (p.R203C)
ISCN -
DB-ID GJC2_000046
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJC2 NM_020435.3 ?/. - c.607C>T r.(?) p.(Arg203Cys)