Genomic variant #0000016482

Chromosome 5
Allele Unknown
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.149360176_149360178del
DNA change (hg38) g.149980613_149980615del
Published as ∆gtt (∆V340); 1045–1047delGTT: V340del
ISCN -
DB-ID SLC26A2_000017
Variant remarks Several DTD patients of various ethnicity, also Finnish and Japanese; Functional studies show decreased sulfate transport activity
Reference PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Hästbacka et al. 1999, PubMed: Cai et al. 1998
ClinVar ID -
dbSNP ID rs121908077
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A2 NM_000112.3 +/+ 3 c.1020_1022del r.(?) p.(Val341del)