Variant #0000684842 (NC_000010.10:g.216462754T>C, USH2A(NM_206933.2):c.1841-2 A>G)

Individual ID 00308794
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.216462754T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID USH2A_001781
Variant remarks -
Reference PubMed: Santana 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/. - c.1841-2 A>G r.spl p.(Gly614Aspfs*6) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309939 DNA SEQ;SEQ-NG - 14 gene panel USH2A 1 Global Variome, with Curator vacancy