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NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) AND Biotinidase deficiency

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000144057.3

Allele description [Variation Report for NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)]

NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)
HGVS:
  • NC_000003.12:g.15642053C>G
  • NG_008019.2:g.45702C>G
  • NM_000060.4:c.455C>G
  • NM_001281723.4:c.395C>G
  • NM_001281724.3:c.395C>G
  • NM_001281725.3:c.395C>G
  • NM_001281726.3:c.395C>G
  • NM_001323582.2:c.395C>G
  • NM_001370658.1:c.395C>GMANE SELECT
  • NM_001370752.1:c.395C>G
  • NM_001370753.1:c.395C>G
  • NM_001407364.1:c.395C>G
  • NM_001407365.1:c.395C>G
  • NM_001407366.1:c.395C>G
  • NM_001407367.1:c.395C>G
  • NM_001407368.1:c.395C>G
  • NM_001407369.1:c.395C>G
  • NM_001407370.1:c.395C>G
  • NM_001407371.1:c.395C>G
  • NM_001407372.1:c.395C>G
  • NM_001407373.1:c.395C>G
  • NM_001407374.1:c.395C>G
  • NM_001407375.1:c.395C>G
  • NM_001407376.1:c.395C>G
  • NM_001407377.1:c.395C>G
  • NM_001407378.1:c.395C>G
  • NM_001407379.1:c.395C>G
  • NM_001407380.1:c.395C>G
  • NM_001407381.1:c.458C>G
  • NM_001407382.1:c.395C>G
  • NM_001407383.1:c.395C>G
  • NM_001407384.1:c.395C>G
  • NM_001407386.1:c.395C>G
  • NM_001407388.1:c.395C>G
  • NM_001407390.1:c.395C>G
  • NM_001407392.1:c.395C>G
  • NM_001407394.1:c.395C>G
  • NM_001407395.1:c.395C>G
  • NM_001407396.1:c.395C>G
  • NM_001407397.1:c.395C>G
  • NM_001407398.1:c.395C>G
  • NM_001407399.1:c.395C>G
  • NM_001407400.1:c.395C>G
  • NM_001407401.1:c.395C>G
  • NP_000051.1:p.Thr152Arg
  • NP_001268652.2:p.Thr132Arg
  • NP_001268652.2:p.Thr132Arg
  • NP_001268653.2:p.Thr132Arg
  • NP_001268654.1:p.Thr132Arg
  • NP_001268654.1:p.Thr132Arg
  • NP_001268655.2:p.Thr132Arg
  • NP_001268655.2:p.Thr132Arg
  • NP_001310511.1:p.Thr132Arg
  • NP_001310511.1:p.Thr132Arg
  • NP_001357587.1:p.Thr132Arg
  • NP_001357681.1:p.Thr132Arg
  • NP_001357682.1:p.Thr132Arg
  • NP_001394293.1:p.Thr132Arg
  • NP_001394294.1:p.Thr132Arg
  • NP_001394295.1:p.Thr132Arg
  • NP_001394296.1:p.Thr132Arg
  • NP_001394297.1:p.Thr132Arg
  • NP_001394298.1:p.Thr132Arg
  • NP_001394299.1:p.Thr132Arg
  • NP_001394300.1:p.Thr132Arg
  • NP_001394301.1:p.Thr132Arg
  • NP_001394302.1:p.Thr132Arg
  • NP_001394303.1:p.Thr132Arg
  • NP_001394304.1:p.Thr132Arg
  • NP_001394305.1:p.Thr132Arg
  • NP_001394306.1:p.Thr132Arg
  • NP_001394307.1:p.Thr132Arg
  • NP_001394308.1:p.Thr132Arg
  • NP_001394309.1:p.Thr132Arg
  • NP_001394310.1:p.Thr153Arg
  • NP_001394311.1:p.Thr132Arg
  • NP_001394312.1:p.Thr132Arg
  • NP_001394313.1:p.Thr132Arg
  • NP_001394315.1:p.Thr132Arg
  • NP_001394317.1:p.Thr132Arg
  • NP_001394319.1:p.Thr132Arg
  • NP_001394321.1:p.Thr132Arg
  • NP_001394323.1:p.Thr132Arg
  • NP_001394324.1:p.Thr132Arg
  • NP_001394325.1:p.Thr132Arg
  • NP_001394326.1:p.Thr132Arg
  • NP_001394327.1:p.Thr132Arg
  • NP_001394328.1:p.Thr132Arg
  • NP_001394329.1:p.Thr132Arg
  • NP_001394330.1:p.Thr132Arg
  • NC_000003.11:g.15683560C>G
  • NM_001281723.3:c.395C>G
  • NM_001281725.2:c.395C>G
  • NM_001281726.2:c.395C>G
  • NM_001323582.1:c.395C>G
Protein change:
T132R
Links:
dbSNP: rs587783003
NCBI 1000 Genomes Browser:
rs587783003
Molecular consequence:
  • NM_000060.4:c.455C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281726.3:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370753.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407380.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407381.1:c.458C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407382.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407383.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407384.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407386.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407388.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407390.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407392.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407394.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407395.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407396.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407397.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407398.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407399.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407400.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407401.1:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Biotinidase deficiency
Synonyms:
BTD deficiency; Late-onset biotin-responsive multiple carboxylase deficiency; Biotin deficiency
Identifiers:
MONDO: MONDO:0009665; MedGen: C0220754; Orphanet: 79241; OMIM: 253260

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189130Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories
no assertion criteria provided
Pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B.

Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16.

PubMed [citation]
PMID:
24797656

Details of each submission

From Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories, SCV000189130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 15, 2024