Genomic variant #0000016432

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74354306G>A
DNA change (hg38) g.73644583G>A
Published as R39C, in loop before TM domain 1
ISCN -
DB-ID SLC17A5_000002 See all 3 reported entries
Variant remarks Finnish major SD mutation: >100 Finnish SD patients (most hom) and also 14 Swedish SD patients (most hom). In addition, British, Italian, Dutch, German, American and Old Order Mennonite SD patients.
Reference PubMed: Verheijen et al. 1999, PubMed: Aula et al. 2000, PubMed: Varho et al. 2002, PubMed: Linnakivi et al. 2003, PubMed: Martin et al. 2003, PubMed: Strauss et al. 2005
ClinVar ID -
dbSNP ID rs80338794
Origin SUMMARY record
Segregation yes
Frequency 0/100 FIN CON
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00038 View details
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC17A5 NM_012434.4 +/+ 2 c.115C>T - r.115c>t p.Arg39Cys