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NM_001370658.1(BTD):c.1264G>A (p.Val422Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000293118.5

Allele description [Variation Report for NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)]

NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)
HGVS:
  • NC_000003.12:g.15645180G>A
  • NG_008019.2:g.48829G>A
  • NG_008019.3:g.48830G>A
  • NM_000060.4:c.1324G>A
  • NM_001281723.4:c.1264G>A
  • NM_001281724.3:c.1264G>A
  • NM_001281725.3:c.1264G>A
  • NM_001323582.2:c.1264G>A
  • NM_001370658.1:c.1264G>AMANE SELECT
  • NM_001370752.1:c.1015+249G>A
  • NM_001370753.1:c.399+3123G>A
  • NM_001407364.1:c.1264G>A
  • NM_001407365.1:c.1264G>A
  • NM_001407366.1:c.1264G>A
  • NM_001407367.1:c.1264G>A
  • NM_001407368.1:c.1264G>A
  • NM_001407369.1:c.1264G>A
  • NM_001407370.1:c.1264G>A
  • NM_001407371.1:c.1264G>A
  • NM_001407372.1:c.1264G>A
  • NM_001407373.1:c.1264G>A
  • NM_001407374.1:c.1264G>A
  • NM_001407375.1:c.1264G>A
  • NM_001407376.1:c.1264G>A
  • NM_001407377.1:c.1264G>A
  • NM_001407378.1:c.1264G>A
  • NP_000051.1:p.Val442Ile
  • NP_001268652.2:p.Val422Ile
  • NP_001268652.2:p.Val422Ile
  • NP_001268653.2:p.Val422Ile
  • NP_001268654.1:p.Val422Ile
  • NP_001268654.1:p.Val422Ile
  • NP_001310511.1:p.Val422Ile
  • NP_001310511.1:p.Val422Ile
  • NP_001357587.1:p.Val422Ile
  • NP_001394293.1:p.Val422Ile
  • NP_001394294.1:p.Val422Ile
  • NP_001394295.1:p.Val422Ile
  • NP_001394296.1:p.Val422Ile
  • NP_001394297.1:p.Val422Ile
  • NP_001394298.1:p.Val422Ile
  • NP_001394299.1:p.Val422Ile
  • NP_001394300.1:p.Val422Ile
  • NP_001394301.1:p.Val422Ile
  • NP_001394302.1:p.Val422Ile
  • NP_001394303.1:p.Val422Ile
  • NP_001394304.1:p.Val422Ile
  • NP_001394305.1:p.Val422Ile
  • NP_001394306.1:p.Val422Ile
  • NP_001394307.1:p.Val422Ile
  • NC_000003.11:g.15686687G>A
  • NM_000060.3:c.1324G>A
  • NM_001281723.3:c.1264G>A
  • NM_001281725.2:c.1264G>A
  • NM_001323582.1:c.1264G>A
Protein change:
V422I
Links:
dbSNP: rs776369447
NCBI 1000 Genomes Browser:
rs776369447
Molecular consequence:
  • NM_001370752.1:c.1015+249G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3123G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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  • Amino Acid Sequence
    Amino Acid Sequence
    The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN...<br/>Year introduced: 1966
    MeSH
  • Protein Domains
    Protein Domains
    Discrete protein structural units that may fold independently of the rest of the protein and have their own functions.<br/>Year introduced: 2017
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000343405Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Jun 22, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343405.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023