Variant #0000387353 (NC_000001.10:g.216595596del, USH2A(NM_206933.2):c.83del)

Individual ID 00169606
Chromosome 1
Allele Maternal (inferred)
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.216595596del
DNA change (hg38) g.216422254del
Published as 83delT
ISCN -
DB-ID USH2A_000360 See all 2 reported entries
Variant remarks Homozygous
Reference PubMed: Baux 2014
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 Anne-Françoise Roux
Database submission license No license selected
Created by Anne-Françoise Roux
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/+ 2 c.83del r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000170479 DNA SEQ - - - 30 Anne-Françoise Roux