Genomic variant #0000016433

Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74320156C>T
DNA change (hg38) g.73610433C>T
Published as c1226G>A, G409E, alteration of a highly conserved amino acid within a transmembrane region
ISCN -
DB-ID SLC17A5_000003
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 +?/+? 9 c.1226G>A - r.1226g>a p.Gly409Glu