Genomic variant #0000016443

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74325141_74325142delTA
DNA change (hg38) g.73615418_73615419delTA
Published as 2-base pair deletion (1007-1008)
ISCN -
DB-ID SLC17A5_000013
Variant remarks 5 Finnish SD patients (com-het) and 1 Swedish SD patient (com-het)
Reference PubMed: Aula et al. 2000, PubMed: Varho et al. 2002
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 +/+ 8 c.1007_1008delTA - r.1007_1008delta p.Leu336Trpfs*14