Genomic variant #0000016487

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.149360550delT
DNA change (hg38) g.149980987delT
Published as 1421delT: FS/stop
ISCN -
DB-ID SLC26A2_000022
Variant remarks Rare Belgian DTD mutation
Reference PubMed: Rossi et al. 2001
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.1394delT - r.(1394delu) p.(Leu465Cysfs*5)