Variant #0000713281 (NC_000001.10:g.215972325G>C, NM_206933.2:c.9882C>G (USH2A))

Individual ID 00327943
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.215972325G>C
DNA change (hg38) -
Published as 1:215972325G>C ENST00000307340.3:c.9882C>G (Cys3294Trp)
ISCN -
DB-ID USH2A_001811 See all 6 reported entries
Variant remarks -
Reference PubMed: Carss 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-01-27 12:09:59 +01:00 (CET)
Date last edited 2025-03-13 14:27:53 +01:00 (CET)
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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.9882C>G r.(?) p.(Cys3294Trp) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000329158 DNA SEQ-NG - WES USH2A 2 LOVD


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