Variant #0000391463 (NC_000001.10:g.216595579G>A, USH2A(NM_206933.2):c.100C>T)

Individual ID 00170556
Chromosome 1
Allele Parent #2
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.216595579G>A
DNA change (hg38) g.216422237G>A
Published as -
ISCN -
DB-ID USH2A_000165 See all 15 reported entries
Variant remarks Heterozygous; mutation
Reference PubMed: Jiang 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I;
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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.100C>T r.(?) p.(Arg34*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171429 DNA SEQ;SEQ-NG-S - - - 2 Anne-Françoise Roux