Variant #0000375448 (NC_000007.13:g.107303857C>T, NM_000441.1:c.281C>T (SLC26A4))

Individual ID 00167352
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.107303857C>T
DNA change (hg38) g.107663412C>T
Published as -
ISCN -
DB-ID SLC26A4_000041
Variant remarks heterozygous; Mutation
Reference PubMed: Huang S 2011; USMA-missense variant in MSV3d
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/400 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2014-06-03 09:34:54 +02:00 (CEST)
Date last edited 2014-08-14 17:24:01 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A4 NM_000441.1 +?/+? 3 c.281C>T r.(?) p.(Thr94Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000168231 DNA SEQ - - - 2 Anne-Françoise Roux


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