Variant #0000016444 (NC_000006.11:g.74320243_74320244del, NM_012434.4:c.1138_1139del (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.74320243_74320244del
DNA change (hg38) g.73610520_73610521del
Published as 1138–1139del: Frameshift, 7 novel amino acids, premature stop
ISCN -
DB-ID SLC17A5_000014 See all 2 reported entries
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 (gnomAD v.2.1.1) 6.0E-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 2020-06-19 15:00:09 +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 +/+ 9 c.1138_1139del r.1138_1139delgt p.Val380Serfs*8


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