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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/. - c.12067-2A>G r.spl p.? -


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