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rs80338686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338686(C;T)
Make rs80338686(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645468
GeneBTD
is asnp
is mentioned by
dbSNPrs80338686
ebirs80338686
HLIrs80338686
Exacrs80338686
Varsomers80338686
Maprs80338686
PheGenIrs80338686
hapmaprs80338686
1000 genomesrs80338686
hgdprs80338686
ensemblrs80338686
gopubmedrs80338686
geneviewrs80338686
scholarrs80338686
googlers80338686
pharmgkbrs80338686
gwascentralrs80338686
openSNPrs80338686
23andMers80338686
23andMe allrs80338686
SNP Nexus

SNPshotrs80338686
SNPdbers80338686
MSV3drs80338686
GWAS Ctlgrs80338686
Max Magnitude0
OMIM609019
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338686(A,T;A,T)
Alt rs80338686(A,T;A,T)
Reference rs80338686(C;C)
Significance Pathogenic
Disease not provided Biotinidase deficiency
Variation info
Gene BTD
CLNDBN not provided Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686975C>A; NC_000003.11:g.15686975C>T
CLNSRC ARUP BTD HGMD OMIM Allelic Variant
CLNACC RCV000185811.1, RCV000001975.4, RCV000078070.3,


[PMID 9099842] Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.