Variant #0000277306 (NC_000001.10:g.228345602C>T, GJC2(NM_020435.3):c.143C>T)

Chromosome 1
Allele Unknown
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 GJC2(NM_020435.3):c.143C>T (p.S48L)
ISCN -
DB-ID GJC2_000024 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.143C>T r.(?) p.(Ser48Leu)