Variant #0000684591 (NC_000001.10:g.216595579G>A, USH2A(NM_206933.2):c.100C>T)

Individual ID 00308573
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595579G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID USH2A_000165 See all 15 reported entries
Variant remarks -
Reference PubMed: Holtan 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/899 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Global Variome, with Curator vacancy
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     
0000309718 DNA SEQ - - USH2A 1 Global Variome, with Curator vacancy