Variant #0000090851 (NC_000001.10:g.147380823T>G, GJA8(NM_005267.4):c.741T>G)

Individual ID 00060075
Chromosome 1
Allele Parent #1
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.147380823T>G
DNA change (hg38) g.147908696T>G
Published as -
ISCN -
DB-ID GJA8_000021 See all 3 reported entries
Variant remarks LOVD2: GJ8_00004
Reference PubMed: Polyakov 2001, OMIM:var0003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00356 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJA8 NM_005267.4 +/. 2 c.741T>G r.(?) p.(Ile247Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060062 DNA SEQ - - GJA8 1 Johan den Dunnen