Genomic variant #0000016435

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74348135_74351647del
DNA change (hg38) g.73638412_73641924del
Published as 292–611del:deletion of exons 3-4
ISCN -
DB-ID SLC17A5_000005
Variant remarks 1 German SD patient (com-het)
Reference PubMed: Aula et al. 2000
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 +/+ 2i_4i c.292_613del - r.292_613del p.(Gly98Glufs*7)