Variant #0000605236 (NC_000001.10:g.228346406C>T, GJC2(NM_020435.3):c.947C>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.228346406C>T
DNA change (hg38) g.228158705C>T
Published as GJC2(NM_020435.3):c.947C>T (p.(Pro316Leu)), GJC2(NM_020435.4):c.947C>T (p.P316L)
ISCN -
DB-ID GJC2_000028 See all 3 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) 0.00099 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJC2 NM_020435.3 -?/. - c.947C>T r.(?) p.(Pro316Leu)