Variant #0000254785 (NC_000001.10:g.147380740A>G, GJA8(NM_005267.4):c.658A>G)

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.147380740A>G
DNA change (hg38) g.147908613A>G
Published as GJA8(NM_005267.4):c.658A>G (p.N220D, p.(Asn220Asp))
ISCN -
DB-ID GJA8_000032 See all 4 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) 0.00229 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJA8 NM_005267.4 -?/. - c.658A>G r.(?) p.(Asn220Asp)