Variant #0000390103 (NC_000001.10:g.216595607A>C, USH2A(NM_206933.2):c.72T>G)

Individual ID 00170204
Chromosome 1
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595607A>C
DNA change (hg38) g.216422265A>C
Published as -
ISCN -
DB-ID USH2A_000734 See all 2 reported entries
Variant remarks Homozygous
Reference PubMed: Baux 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site +BfaI
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anne-Françoise Roux
Database submission license No license selected
Created by Anne-Françoise Roux
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/+ 2 c.72T>G r.(?) p.(Tyr24*) Signal peptide (1-31)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171077 DNA SEQ - - - 22 Anne-Françoise Roux