Variant #0000391957 (NC_000001.10:g.215827312T>C, NC_000001.10(NM_206933.2):c.14134-3169A>G (USH2A))

Individual ID 00170804
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.215827312T>C
DNA change (hg38) g.215653970T>C
Published as Val4711Glufs*6
ISCN -
DB-ID USH2A_001080 See all 3 reported entries
Variant remarks effect on splicing predicted from minigene splicing assay
Reference PubMed: Baux, Vaché 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
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 2017-08-16 11:56:41 +02:00 (CEST)
Date last edited 2020-09-23 10:24:57 +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 +/+ 64i c.14134-3169A>G r.(14133_14134ins14134-3221_14134-3168) p.(Gln14711_Val4712delinsEKPTH*) Fibronectin type-III 32 (4633-4730)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171677 DNA SEQ;SEQ-NG-S - - - 3 Anne-Françoise Roux


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