Variant #0000016435 (NC_000006.11:g.74348137_74351649del, NC_000006.11(NM_012434.4):c.293_613+1del (SLC17A5))

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.74348137_74351649del
DNA change (hg38) g.73638414_73641926del
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 (gnomAD v.2.1.1) Retrieve
Owner Anne Polvi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Anne Polvi
Date created 2012-11-15 14:02:15 +01:00 (CET)
Date last edited 2020-06-19 15:00:17 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC17A5 NM_012434.4 +/+ 2i_4i c.293_613+1del r.292_613del p.(Gly98Glufs*7)


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