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rs13078881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6.7 Biotinidase deficiency; note ability to treat & variable penetrance
(C;G) 3 Carrier of a biotinidase deficiency mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position15645186
GeneBTD
is asnp
is mentioned by
dbSNPrs13078881
dbSNP (classic)rs13078881
ClinGenrs13078881
ebirs13078881
HLIrs13078881
Exacrs13078881
Gnomadrs13078881
Varsomers13078881
LitVarrs13078881
Maprs13078881
PheGenIrs13078881
Biobankrs13078881
1000 genomesrs13078881
hgdprs13078881
ensemblrs13078881
geneviewrs13078881
scholarrs13078881
googlers13078881
pharmgkbrs13078881
gwascentralrs13078881
openSNPrs13078881
23andMers13078881
23andMe allrs13078881
SNPshotrs13078881
SNPdbers13078881
MSV3drs13078881
GWAS Ctlgrs13078881
GMAF0.01882
Max Magnitude6.7

rs13078881, also known as c.1330G>C, p.Asp444His and D444H, represents a mutation in the BTD gene on chromosome 3.

Inherited recessively, the rs13078881(C) allele is considered by ClinVar (and BabySeq) as a pathogenic mutation for biotinidase deficiency. However, it appears as if the D444H mutation results in 48% of normal enzyme activity, and if found in combination with a BTD gene mutation associated with profound deficiency, may result in partial biotinidase deficiency.[PMID 9654207]

Note that this condition is treatable; children with biotinidase deficiency identified early enough should remain asymptomatic if biotin therapy is instituted early.

? (C;C) (C;G) (G;G) 28




OMIM609019
Desc
Variant0005
Relatedalso


ClinVar
Risk Rs13078881(C;C)
Alt Rs13078881(C;C)
Reference Rs13078881(G;G)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15686693G>C
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001977.6, RCV000001981.3, RCV000021912.1, RCV000021933.1, RCV000021936.2, RCV000021952.1, RCV000078064.6,



[PMID 9375914] Profound biotinidase deficiency in two asymptomatic adults.

[PMID 9654207] Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

[PMID 10400129] Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.