Variant #0000390677 (NC_000001.10:g.216598040G>T, USH2A(NM_206933.2):c.-1689C>A)

Individual ID 00170288
Chromosome 1
Allele Paternal (inferred)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.216598040G>T
DNA change (hg38) g.216424698G>T
Published as -
ISCN -
DB-ID USH2A_000808 See all 8 reported entries
Variant remarks Homozygous
Reference PubMed: Baux 2014
ClinVar ID -
dbSNP ID rs10863240
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anne-Françoise Roux
Database submission license No license selected
Created by Anne-Françoise Roux
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 -/- _1 c.-1689C>A r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171161 DNA SEQ;SEQ-NG-S - - - 37 Anne-Françoise Roux