Variant #0000759607 (NC_000001.10:g.243468035T>G, NM_006642.3:c.696T>G (SDCCAG8))
Individual ID |
00358746 |
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.243468035T>G |
DNA change (hg38) |
g.243304733T>G |
Published as |
- |
ISCN |
- |
DB-ID |
SDCCAG8_000053 See all 4 reported entries |
Variant remarks |
- |
Reference |
PubMed: Carrigan 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
5.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-03-11 13:59:15 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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