Variant #0000713840 (NC_000001.10:g.216595579G>A, USH2A(NM_206933.2):c.100C>T)

Individual ID 00328219
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595579G>A
DNA change (hg38) -
Published as 1:216595579G>A ENST00000307340.3:c.100C>T (Arg34Ter)
ISCN -
DB-ID USH2A_000165 See all 15 reported entries
Variant remarks -
Reference PubMed: Carss 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/. - c.100C>T r.(?) p.(Arg34*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000329434 DNA SEQ-NG - WGS USH2A 2 LOVD