Variant #0000736784 (NC_000001.10:g.216595492G>A, USH2A(NM_206933.2):c.187C>T)

Individual ID 00335918
Chromosome 1
Allele Parent #2
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.216595492G>A
DNA change (hg38) g.216422150G>A
Published as -
ISCN -
DB-ID USH2A_000017 See all 17 reported entries
Variant remarks possible duplicate
Reference PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/. 2 c.187C>T r.(?) p.(Arg63*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000337148 DNA SEQ - - USH2A 2 Anne-Françoise Roux