Variant #0000814263 (NC_000001.10:g.215847914T>C, NM_206933.2:c.13339A>G (USH2A))

Individual ID 00385396
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.215847914T>C
DNA change (hg38) g.215674572T>C
Published as USH2A:NM_206933:exon63:c.13339A>G:p.M4447V
ISCN -
DB-ID USH2A_000441 See all 29 reported entries
Variant remarks compound heterozygous
Reference PubMed: Chen 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-10 19:46:50 +02:00 (CEST)
Date last edited 2025-03-09 07:08:04 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +?/. 63 c.13339A>G r.(?) p.(Met4447Val) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386625 DNA SEQ-NG-I blood - USH2A 2 LOVD


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.