Variant #0000378636 (NC_000001.10:g.216420460C>A, NM_206933.2:c.2276G>T (USH2A))
Individual ID |
00168043 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.216420460C>A |
DNA change (hg38) |
g.216247118C>A |
Published as |
- |
ISCN |
- |
DB-ID |
USH2A_000016 See all 641 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs80338902 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00095 View details |
Owner |
María González-del Pozo |
Database submission license |
No license selected |
Created by |
María González-del Pozo |
Date created |
2018-07-16 12:41:18 +02:00 (CEST) |
Date last edited |
2019-07-26 19:52:29 +02:00 (CEST) |

Variant on transcripts
Screenings
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