Variant #0000016439 (NC_000006.11:g.74345105_74348221del, SLC17A5(NM_012434.4):c.526_819del)

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.74345105_74348221del
DNA change (hg38) -
Published as 526–819del: del exons 4–6; del (525-818): del exons 4-6
ISCN -
DB-ID SLC17A5_000009
Variant remarks 4 Finnish SD patients (com-het)
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
Reference PubMed: Varho et al. 2002, PubMed: Aula et al. 2000
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
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 +/+ 3i_6i c.526_819del r.526_819del p.Gly176_Gln273del