Variant #0000389196 (NC_000001.10:g.216595549C>T, USH2A(NM_206933.2):c.130G>A)

Individual ID 00170148
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595549C>T
DNA change (hg38) g.216422207C>T
Published as -
ISCN -
DB-ID USH2A_000676
Variant remarks Heterozygous; Pathogenic
Reference PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/200 controls
Re-site none
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jose Maria Millan
Database submission license No license selected
Created by Jose Maria Millan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +?/? 2 c.130G>A r.(?) p.(Gly44Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171021 DNA SEQ - - - 23 Jose Maria Millan