Variant #0000953147 (NC_000001.10:g.216052432C>G, NM_206933.2:c.8232G>C (USH2A))

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.216052432C>G
DNA change (hg38) g.215879090C>G
Published as -
ISCN -
DB-ID USH2A_000743 See all 37 reported entries
Variant remarks ACMG GN005 criteria: PM2_P PM3_VS
Reference PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: He, C. et al., 2020; PubMed: Zhu, X. et al., 2020; PubMed: Meng, X. et al., 2021; PubMed: Jiang, L. et al., 2015; PubMed: Sun, Y. et al., 2020
ClinVar ID -
dbSNP ID rs1424639717
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-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 16:59:13 +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.8232G>C r.(?) p.(Trp2744Cys) -


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