Genomic variant #0000016480

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.149359991C>T
DNA change (hg38) g.149980428C>T
Published as 862C>T: R279W; c862t:R279W
ISCN -
DB-ID SLC26A2_000015 See all 3 reported entries
Variant remarks Many Caucasian and Finnish DTD families: The second most common DTD mutation in Finland and most frequent mutation outside Finland; Functional studies show dicreased sulfate transport activity
Reference PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Hästbacka et al. 1999, PubMed: Dwyer et al. 2010, PubMed: Barbosa et al. 2011
ClinVar ID -
dbSNP ID rs104893915
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00115 View details
Owner Anne Polvi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A2 NM_000112.3 +/+ 3 c.835C>T r.(835C>T) p.(Arg279Trp)