Variant #0000367266 (NC_000009.11:g.117186712C>T, NM_015404.3:c.1318G>A (DFNB31))
Individual ID |
00163318 |
Chromosome |
9 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.117186712C>T |
DNA change (hg38) |
g.114424432C>T |
Published as |
- |
ISCN |
- |
DB-ID |
DFNB31_000014 See all 5 reported entries |
Variant remarks |
homozygous, {USMAWHRN:A440T} {MSV3dQ9P202:p.Ala440Thr} |
Reference |
PubMed: Rong et al., 2014 |
ClinVar ID |
- |
dbSNP ID |
rs4978584 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
+MslI;+MwoI;+BglI; |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.26184 View details |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
David Baux |
Date created |
2014-08-04 12:04:00 +02:00 (CEST) |
Date last edited |
2016-05-30 18:09:45 +02:00 (CEST) |

Variant on transcripts
Screenings
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