Variant #0000713336 (NC_000001.10:g.215822026G>A, NM_206933.2:c.14426C>T (USH2A))
Individual ID |
00327998 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.215822026G>A |
DNA change (hg38) |
- |
Published as |
1:215822026G>A ENST00000307340.3:c.14426C>T (Thr4809Ile) |
ISCN |
- |
DB-ID |
USH2A_000012 See all 17 reported entries |
Variant remarks |
- |
Reference |
PubMed: Carss 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-01-27 12:09:59 +01:00 (CET) |
Date last edited |
2025-03-09 11:42:45 +01:00 (CET) |

Variant on transcripts
Screenings
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