Have questions? Visit https://www.reddit.com/r/SNPedia

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
ebirs13073139
HLIrs13073139
Exacrs13073139
Varsomers13073139
Maprs13073139
PheGenIrs13073139
hapmaprs13073139
1000 genomesrs13073139
hgdprs13073139
ensemblrs13073139
gopubmedrs13073139
geneviewrs13073139
scholarrs13073139
googlers13073139
pharmgkbrs13073139
gwascentralrs13073139
openSNPrs13073139
23andMers13073139
23andMe allrs13073139
SNP Nexus

SNPshotrs13073139
SNPdbers13073139
MSV3drs13073139
GWAS Ctlgrs13073139
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM609019
DescBIOTINIDASE DEFICIENCY
Variant0005
Relatedalso
Neighborrs28934601
Distance244


Venter snp
Source plos
Gene BTD
allele A
frequency
sift TOLERATED
HuRef 1103656032576
Disease Association Defects in BTD are the cause of biotinidase deficiency (BTD deficiency) (MIM:253260); also called late onset multiple carboxylase deficiency. BTD deficiency is a disease characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. Profound BTD deficiency has a 10% or less mean normal serum activity. Partial BTD deficiency has a 10%-30% of mean normal serum activity. Children with partial BTD deficiency and who are not treated with biotin do not usually exhibit symptoms unless they are stressed (prolonged infection...). Partial BTD deficiency usually occurs when an individual has one allele that results in nearly total loss of activity in combination with an allele having the ""D424H"" mutation.



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 ARUP BTD HGMD OMIM Allelic Variant
CLNACC RCV000021936.2, RCV000031859.3, RCV000078073.5,



[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.