Variant #0000953293 (NC_000001.10:g.215956170G>A, NM_206933.2:c.10495C>T (USH2A))
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.215956170G>A |
DNA change (hg38) |
g.215782828G>A |
Published as |
- |
ISCN |
- |
DB-ID |
USH2A_002646 See all 2 reported entries |
Variant remarks |
ACMG GN005 criteria: PM2_P PM3_P |
Reference |
PubMed: Inaba, A. et al., 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
David Baux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
David Baux |
Date created |
2023-12-12 17:01:23 +01:00 (CET) |
Date last edited |
2023-12-13 17:38:50 +01:00 (CET) |

Variant on transcripts
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