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rs13073139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs13073139(A;A)
Make rs13073139(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644367
GeneBTD
is asnp
is mentioned by
dbSNPrs13073139
dbSNP (old)rs13073139
ClinGenrs13073139
ebirs13073139
HLIrs13073139
Exacrs13073139
Gnomadrs13073139
Varsomers13073139
LitVarrs13073139
Maprs13073139
PheGenIrs13073139
Biobankrs13073139
1000 genomesrs13073139
hgdprs13073139
ensemblrs13073139
gopubmedrs13073139
geneviewrs13073139
scholarrs13073139
googlers13073139
pharmgkbrs13073139
gwascentralrs13073139
openSNPrs13073139
23andMers13073139
23andMe allrs13073139
SNPshotrs13073139
SNPdbers13073139
MSV3drs13073139
GWAS Ctlgrs13073139
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM609019
DescBIOTINIDASE DEFICIENCY
Variant0005
Relatedalso



ClinVar
Risk rs13073139(A;A)
Alt rs13073139(A;A)
Reference Rs13073139(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.15685874G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000021936.2, RCV000031859.3, RCV000078073.6,



[PMID 18704161OA-icon.png] Genetic variation in an individual human exome.


[PMID 7509806] Human serum biotinidase. cDNA cloning, sequence, and characterization.


[PMID 9232193] Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.


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


[PMID 10206677] Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.


[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.