Genomic variant #0000016492

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.149360877T>C
DNA change (hg38) g.149981314T>C
Published as 1748C>T: T574I possibly rare polymorphism
ISCN -
DB-ID SLC26A2_000026 See all 5 reported entries
Variant remarks German, Dutch polymorphism, possible association with DTD; Possibly rare polymorphism
Reference PubMed: Rossi et al. 2001
ClinVar ID -
dbSNP ID rs30832
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.99323 View details
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC26A2 NM_000112.3 ?/? 3 c.1721T>C - r.(1721u>c) p.(Ile574Thr)