Variant #0000390407 (NC_000001.10:g.216595503C>T, USH2A(NM_206933.2):c.176G>A)

Individual ID 00170253
Chromosome 1
Allele Unknown
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.216595503C>T
DNA change (hg38) g.216422161C>T
Published as -
ISCN -
DB-ID USH2A_000770
Variant remarks Heterozygous; likely pathogenic
Reference PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -HinfI;-MlyI;-PleI;-XcmI;
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Anne-Françoise Roux
Database submission license No license selected
Created by Anne-Françoise Roux
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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.176G>A r.(?) p.(Gly59Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171126 DNA SEQ;SEQ-NG-S - - - 2 Anne-Françoise Roux