Variant #0000953391 (NC_000001.10:g.215853720T>C, NC_000001.10(NM_206933.2):c.12067-2A>G (USH2A))
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.215853720T>C |
DNA change (hg38) |
g.215680378T>C |
Published as |
- |
ISCN |
- |
DB-ID |
USH2A_000134 See all 45 reported entries |
Variant remarks |
ACMG GN005 criteria: PVS1_VS PM2_P PM3_VS PP1_P |
Reference |
PubMed: Falsini, B. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Gonzalez-Del Pozo, M. et al., 2018; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Bahena, P. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Khalaileh, A. et al., 2018; PubMed: Weisschuh, N. et al., 2020 |
ClinVar ID |
- |
dbSNP ID |
rs397517978 |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
8.0E-5 View details |
Owner |
David Baux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
David Baux |
Date created |
2023-12-12 17:02:46 +01:00 (CET) |
Date last edited |
2023-12-13 17:38:50 +01:00 (CET) |

Variant on transcripts
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|