Genomic variant #0000016471

Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.149357444A>C
DNA change (hg38) g.149977881A>C
Published as 256A>C: N77H
ISCN -
DB-ID SLC26A2_000002 See all 3 reported entries
Variant remarks Rare French DTD mutation (mild DTD variant)
Reference PubMed: Rossi et al. 2001
ClinVar ID -
dbSNP ID rs76784312
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A2 NM_000112.3 +?/+? 2 c.229A>C r.(229a>c) p.(Asn77His)