Variant #0000391743 (NC_000001.10:g.215901565_215901566del, NM_206933.2:c.11875_11876del (USH2A))

Individual ID 00170695
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.215901565_215901566del
DNA change (hg38) g.215728223_215728224del
Published as 11875_11876delCA
ISCN -
DB-ID USH2A_000276 See all 20 reported entries
Variant remarks Heterozygous; mutation
Reference PubMed: Bonnet 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Crystel Bonnet
Database submission license No license selected
Created by Crystel Bonnet
Date created 2016-06-27 16:52:43 +02:00 (CEST)
Date last edited 2020-06-05 18:44:59 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/+ 61 c.11875_11876del r.(?) p.(Gln3959Asnfs*53) Fibronectin type-III 24 (3863-3960)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171568 DNA SEQ;SEQ-NG-S - - - 2 Crystel Bonnet


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