Variant #0000375691 (NC_000007.13:g.107302252T>C, NC_000007.13(NM_000441.1):c.164+2T>C (SLC26A4))
Individual ID |
00168030 |
Chromosome |
7 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.107302252T>C |
DNA change (hg38) |
g.107661807T>C |
Published as |
- |
ISCN |
- |
DB-ID |
SLC26A4_000138 |
Variant remarks |
homozygous |
Reference |
PubMed: Baux, Vaché 2017 |
ClinVar ID |
- |
dbSNP ID |
rs397516420 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
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 |
2017-08-14 17:15:45 +02:00 (CEST) |
Date last edited |
2020-09-23 08:47:58 +02:00 (CEST) |

Variant on transcripts
Screenings
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