Genomic variant #0000016439

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74345105_74348221del
DNA change (hg38) -
Published as 526–819del: del exons 4–6; del (525-818): del exons 4-6
ISCN -
DB-ID SLC17A5_000009
Variant remarks 4 Finnish SD patients (com-het)
Reference PubMed: Varho et al. 2002, PubMed: Aula et al. 2000
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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     
SLC17A5 NM_012434.4 +/+ 3i_6i c.526_819del - r.526_819del p.Gly176_Gln273del