Variant #0000375691 (NC_000007.13:g.107302252T>C, NC_000007.13(NM_000441.1):c.164+2T>C (SLC26A4))

Individual ID 00168030
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.107302252T>C
DNA change (hg38) g.107661807T>C
Published as -
ISCN -
DB-ID SLC26A4_000138
Variant remarks homozygous
Reference PubMed: Baux, Vaché 2017
ClinVar ID -
dbSNP ID rs397516420
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 2017-08-14 17:15:45 +02:00 (CEST)
Date last edited 2020-09-23 08:47:58 +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 +/+ 2i c.164+2T>C r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000168909 DNA SEQ;SEQ-NG-S - - - 1 Anne-Françoise Roux


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