Genomic variant #0000016441

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74345108_74345122del
DNA change (hg38) g.73635385_73635399del
Published as 15 base-pair deletion (802–816) in exon 6
ISCN -
DB-ID SLC17A5_000011 See all 2 reported entries
Variant remarks 1 Italian SD patient (het); (previously found only in ISSD patients)
Reference PubMed: Biancheri et al. 2002
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 +/+ 6 c.802_816del - r.802_816del p.Ser268_Asn272del