Variant #0000764183 (NC_000001.10:g.216595505A>T, USH2A(NM_206933.2):c.174T>A)

Individual ID 00362261
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595505A>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID USH2A_002002
Variant remarks -
Reference Bahena et al., 2021 (submitted)
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 Barbara Vona
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Barbara Vona
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/. 2 c.174T>A r.(?) p.(Cys58*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363490 DNA SEQ-NG-I - Exome sequencing - 3 Barbara Vona