Variant #0000016434 (NC_000006.11:g.74354130C>T, NM_012434.4:c.291G>A (SLC17A5))

Chromosome 6
Allele Paternal (confirmed)
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.74354130C>T
DNA change (hg38) g.73644407C>T
Published as c291G>A
ISCN -
DB-ID SLC17A5_000004 See all 2 reported entries
Variant remarks 1 Caucasian SD patient (com-het)
Reference PubMed: Kleta et al. 2001
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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 2017-05-05 19:04:32 +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 +/+ 2 c.291G>A r.95_291del p.Ala32Glyfs*2


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