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 International |
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) |

Variant on transcripts
Screenings
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