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rs80338684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCGGCTG;GCGGCTG) 0 common in clinvar
Make rs80338684(-;-)
Make rs80338684(-;GCGGCTG)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635477
GeneBTD, GAPDHP31
is asnp
is mentioned by
dbSNPrs80338684
ebirs80338684
HLIrs80338684
Exacrs80338684
Varsomers80338684
Maprs80338684
PheGenIrs80338684
hapmaprs80338684
1000 genomesrs80338684
hgdprs80338684
ensemblrs80338684
gopubmedrs80338684
geneviewrs80338684
scholarrs80338684
googlers80338684
pharmgkbrs80338684
gwascentralrs80338684
openSNPrs80338684
23andMers80338684
23andMe allrs80338684
SNP Nexus

SNPshotrs80338684
SNPdbers80338684
MSV3drs80338684
GWAS Ctlgrs80338684
Max Magnitude0
OMIM609019
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338684(TCC;TCC)
Alt rs80338684(TCC;TCC)
Reference rs80338684(GCGGCTG;GCGGCTG)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15676984_15676990delGCGGCTGinsTCC
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001972.2, RCV000021886.1, RCV000078084.4,


[PMID 7550325] Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.


[PMID 8640218] Biotinidase mutational "hotspot'.