Variant #0000952905 (NC_000001.10:g.216348747C>A, NM_206933.2:c.4474G>T (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.216348747C>A
DNA change (hg38) g.216175405C>A
Published as -
ISCN -
DB-ID USH2A_000200 See all 24 reported entries
Variant remarks ACMG GN005 criteria: PVS1_VS PM2_P PM3_S PP1_P
Reference PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Garcia-Garcia, G. et al., 2011; PubMed: Mansard, L. et al., 2021; PubMed: Aparisi, M. J. et al., 2014; PubMed: Bravo-Gil, N. et al., 2016
ClinVar ID -
dbSNP ID rs869312179
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 16:53:36 +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.4474G>T r.(?) p.(Glu1492Ter) -


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