Variant #0000378636 (NC_000001.10:g.216420460C>A, NM_206933.2:c.2276G>T (USH2A))

Individual ID 00168043
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.216420460C>A
DNA change (hg38) g.216247118C>A
Published as -
ISCN -
DB-ID USH2A_000016 See all 641 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs80338902
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00095 View details
Owner María González-del Pozo
Database submission license No license selected
Created by María González-del Pozo
Date created 2018-07-16 12:41:18 +02:00 (CEST)
Date last edited 2019-07-26 19:52:29 +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 +?/. 13 c.2276G>T r.2276U>T p.Cys759Phe -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000168922 DNA SEQ-NG-I - Gene Panel (79 IRD genes) USH2A 2 María González-del Pozo


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