Genomic variant #0000039757

Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74331587A>C
DNA change (hg38) g.73621864A>C
Published as -
ISCN -
DB-ID SLC17A5_000016
Variant remarks 1 Spanish patient (com-het) with SD, previously found in one French ISSD patient (com-het)
Reference PubMed: Couce et al. 2014, PubMed: Aula et al. 2000
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
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.918T>G - r.(?) p.(Tyr306*)