Variant #0000952829 (NC_000001.10:g.216373465T>C, NC_000001.10(NM_206933.2):c.3317-2A>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.216373465T>C
DNA change (hg38) g.216200123T>C
Published as -
ISCN -
DB-ID USH2A_000125 See all 6 reported entries
Variant remarks ACMG GN005 criteria: PVS1_VS PM2_P PM3_P PP1_S
Reference PubMed: Bonnet, C. et al., 2016; PubMed: Glockle, N. et al., 2014; PubMed: Weisschuh, N. et al., 2020
ClinVar ID -
dbSNP ID rs2034951427
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 InternationalCreative Commons License
Created by David Baux
Date created 2023-12-12 16:52:39 +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.3317-2A>G r.spl p.? -


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