Variant #0000090850 (NC_000001.10:g.147380224G>A, GJA8(NM_005267.4):c.142G>A)

Individual ID 00060074
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.147380224G>A
DNA change (hg38) g.147908097G>A
Published as -
ISCN -
DB-ID GJA8_000020
Variant remarks LOVD2: GJ8_00003
Reference PubMed: Berry 1999, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-11-17 23:11:29 +01:00 (CET)
Date last edited 2017-05-23 15:14:08 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJA8 NM_005267.4 +/. 2 c.142G>A r.(?) p.(Glu48Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060061 DNA SEQ - - GJA8 1 Johan den Dunnen