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

rs13078881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs13078881(C;C)
Make rs13078881(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645186
GeneBTD
is asnp
is mentioned by
dbSNPrs13078881
ebirs13078881
HLIrs13078881
Exacrs13078881
Varsomers13078881
Maprs13078881
PheGenIrs13078881
hapmaprs13078881
1000 genomesrs13078881
hgdprs13078881
ensemblrs13078881
gopubmedrs13078881
geneviewrs13078881
scholarrs13078881
googlers13078881
pharmgkbrs13078881
gwascentralrs13078881
openSNPrs13078881
23andMers13078881
23andMe allrs13078881
SNP Nexus

SNPshotrs13078881
SNPdbers13078881
MSV3drs13078881
GWAS Ctlgrs13078881
GMAF0.01882
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene BTD
allele C
frequency
sift AFFECT FUNCTION
HuRef 1103656032579
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.



Neighborrs28934601
Distance575
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 ARUP BTD GeneReviews HGMD OMIM Allelic Variant
CLNACC RCV000001977.4, RCV000001981.3, RCV000021912.1, RCV000021933.1, RCV000021936.2, RCV000021952.1, RCV000078064.5,



[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.


GET Evidence
BTD-D444H
aa_change Asp444His
aa_change_short D444H
impact pathogenic
qualified_impact Low clinical importance, pathogenic
overall_frequency 0.0298383
summary This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.