Variant #0000016442 (NC_000006.11:g.74325166C>T, SLC17A5(NM_012434.4):c.983G>A)

Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.74325166C>T
DNA change (hg38) g.73615443C>T
Published as 983G>A nucleotide change in exon 8
ISCN -
DB-ID SLC17A5_000012
Variant remarks 1 Bedouin SD family (hom)
Reference PubMed: Landau et al. 2004
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/50 BED CON
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anne Polvi
Database submission license No license selected
Created by Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC17A5 NM_012434.4 +?/+? 8 c.983G>A r.983g>a p.Gly328Glu