Variant #0000389967 (NC_000001.10:g.215820902G>A, NM_206933.2:c.14753C>T (USH2A))

Individual ID 00170197
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.215820902G>A
DNA change (hg38) g.215647560G>A
Published as -
ISCN -
DB-ID USH2A_000450 See all 6 reported entries
Variant remarks Heterozygous; unknown
Reference PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d
ClinVar ID -
dbSNP ID rs56136489
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00113 View details
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2012-07-06 09:20:52 +02:00 (CEST)
Date last edited 2018-07-23 10:32:40 +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 -?/? 67 c.14753C>T r.(?) p.(Thr4918Met) Fibronectin type-III 34 (4826-4927)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171070 DNA arrayCGH;MLPA;SEQ - - - 21 Anne-Françoise Roux


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