Variant #0000388871 (NC_000001.10:g.215914751G>T, NM_206933.2:c.11677C>A (USH2A))

Individual ID 00170130
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.215914751G>T
DNA change (hg38) g.215741409G>T
Published as -
ISCN -
DB-ID USH2A_000052 See all 23 reported entries
Variant remarks Heterozygous
Reference PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d
ClinVar ID -
dbSNP ID rs41303285
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01586 View details
Owner Jose Maria Millan
Database submission license No license selected
Created by Jose Maria Millan
Date created 2011-10-07 15:01:58 +02:00 (CEST)
Date last edited 2019-07-26 19:51:10 +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 -/- 60 c.11677C>A r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171003 DNA SEQ - - - 18 Jose Maria Millan


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