Variant #0000549909 (NC_000013.10:g.20717197G>A, GJA3(NM_021954.3):c.231C>T)

Chromosome 13
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.20717197G>A
DNA change (hg38) g.20143058G>A
Published as GJA3(NM_021954.3):c.231C>T (p.F77=)
ISCN -
DB-ID GJA3_000019
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) 0.0033 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-03 13:45:07 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJA3 NM_021954.3 -?/. - c.231C>T r.(?) p.(Phe77=)