Genomic variant #0000016438

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74351432delT
DNA change (hg38) g.73641709delT
Published as del 507A
ISCN -
DB-ID SLC17A5_000008
Variant remarks 1 Finnish SD patient (com-het)
Reference PubMed: Linnakivi et al. 2003
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 +/+ 3 c.507delA - r.507dela p.(Leu170*)