Variant #0000367261 (NC_000009.11:g.117186763G>A, NM_015404.3:c.1267C>T (DFNB31))

Individual ID 00163314
Chromosome 9
Allele Paternal (confirmed)
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.117186763G>A
DNA change (hg38) g.114424483G>A
Published as -
ISCN -
DB-ID DFNB31_000078 See all 3 reported entries
Variant remarks Heterozygous
Reference PubMed: Ben-Salem et al., 2014
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 David Baux
Date created 2014-02-25 10:26:27 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DFNB31 NM_015404.3 +/+ 6 c.1267C>T r.(?) p.(Arg423*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164179 DNA SEQ - - DFNB31 1 Anne-Françoise Roux


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