Genomic variant #0000016434

Chromosome 6
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74354130C>T
DNA change (hg38) g.73644407C>T
Published as c291G>A
ISCN -
DB-ID SLC17A5_000004 See all 2 reported entries
Variant remarks 1 Caucasian SD patient (com-het)
Reference PubMed: Kleta et al. 2001
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 +/+ 2 c.291G>A - r.95_291del p.Ala32Glyfs*2