Variant #0000389667 (NC_000001.10:g.216221926_216221929del, NM_206933.2:c.6116_6119del (USH2A))

Individual ID 00170184
Chromosome 1
Allele Unknown
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.216221926_216221929del
DNA change (hg38) g.216048584_216048587del
Published as -
ISCN -
DB-ID USH2A_000714
Variant remarks Heterozygous
Reference Liquori et al., accepted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site none
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2012-07-05 11:49:50 +02:00 (CEST)
Date last edited 2020-06-05 19:03:34 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 +/+ 31 c.6116_6119del r.(?) p.(Gly2039Valfs*8) Fibronectin type-III 6 (1954-2051)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171057 DNA minigene;SEQ;SEQ-NG-S - - - 24 Anne-Françoise Roux


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.