Genomic variant #0000016477

Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.149359882G>C
DNA change (hg38) -
Published as 3' splice acceptor site of the first intron after start codon: AG>AC; ag( IVS- 1 )ac; IVS2-1G>C; c.727-1G>C
ISCN -
DB-ID SLC26A2_000012
Variant remarks 1 American DTD patient (het) and 2 Portugese DTD patients (com-het)
Reference PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Barbosa et al. 2011
ClinVar ID -
dbSNP ID -
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC26A2 NM_000112.3 +?/+? 3 c.700-1G>C - r.spl? p.?