Genomic variant #0000016444

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74320243_74320244delAC
DNA change (hg38) g.73610520_73610521delAC
Published as 1138–1139del: Frameshift, 7 novel amino acids, premature stop
ISCN -
DB-ID SLC17A5_000014
Variant remarks 1 British SD family (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 +/+ 9 c.1138_1139delGT - r.1138_1139delgt p.Val380Serfs*8