Variant #0000375659 (NC_000007.13:g.107301238C>G, NM_000441.1:c.-66C>G (SLC26A4))
Individual ID |
00167584 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
ACMG |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.107301238C>G |
DNA change (hg38) |
g.107660793C>G |
Published as |
- |
ISCN |
- |
DB-ID |
SLC26A4_000122 |
Variant remarks |
heterozygous; No pathogenicity |
Reference |
PubMed: B.Choi 2009 |
ClinVar ID |
- |
dbSNP ID |
rs17154282 |
Origin |
Germline |
Segregation |
- |
Frequency |
0/146 controls |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anne-Françoise Roux |
Date created |
2014-09-12 10:30:11 +02:00 (CEST) |
Date last edited |
2019-02-27 21:49:41 +01:00 (CET) |

Variant on transcripts
Screenings
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