Variant #0000731576 (NC_000001.10:g.216595553G>C, USH2A(NM_206933.2):c.126C>G)

Individual ID 00332541
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595553G>C
DNA change (hg38) g.216422211G>C
Published as -
ISCN -
DB-ID USH2A_001891
Variant remarks -
Reference PubMed: Comander 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/. - c.126C>G r.(?) p.(Asn42Lys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000333765 DNA SEQ-NG - gene panel USH2A 3 LOVD