Variant #0000384967 (NC_000001.10:g.216595579G>A, USH2A(NM_206933.2):c.100C>T)

Individual ID 00169250
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.216595579G>A
DNA change (hg38) g.216422237G>A
Published as -
ISCN -
DB-ID USH2A_000165 See all 15 reported entries
Variant remarks Heterozygous
Reference PubMed: Jaijo 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I;
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Jose Maria Millan
Database submission license No license selected
Created by Jose Maria Millan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000170123 DNA SEQ - - - 9 Jose Maria Millan