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NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 19, 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:
RCV000623278.3

Allele description [Variation Report for NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)]

NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)

Gene:
KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
HGVS:
  • NC_000002.12:g.240783777G>A
  • NG_029724.1:g.41431C>T
  • NM_001244008.2:c.760C>TMANE SELECT
  • NM_001320705.2:c.760C>T
  • NM_001330289.2:c.760C>T
  • NM_001330290.2:c.760C>T
  • NM_001379631.1:c.760C>T
  • NM_001379632.1:c.760C>T
  • NM_001379633.1:c.760C>T
  • NM_001379634.1:c.760C>T
  • NM_001379635.1:c.760C>T
  • NM_001379636.1:c.760C>T
  • NM_001379637.1:c.760C>T
  • NM_001379638.1:c.760C>T
  • NM_001379639.1:c.760C>T
  • NM_001379640.1:c.760C>T
  • NM_001379641.1:c.760C>T
  • NM_001379642.1:c.760C>T
  • NM_001379645.1:c.760C>T
  • NM_001379646.1:c.760C>T
  • NM_001379648.1:c.760C>T
  • NM_001379649.1:c.760C>T
  • NM_001379650.1:c.760C>T
  • NM_001379651.1:c.760C>T
  • NM_001379653.1:c.760C>T
  • NM_004321.8:c.760C>T
  • NP_001230937.1:p.Arg254Trp
  • NP_001230937.1:p.Arg254Trp
  • NP_001307634.1:p.Arg254Trp
  • NP_001317218.1:p.Arg254Trp
  • NP_001317219.1:p.Arg254Trp
  • NP_001366560.1:p.Arg254Trp
  • NP_001366561.1:p.Arg254Trp
  • NP_001366562.1:p.Arg254Trp
  • NP_001366563.1:p.Arg254Trp
  • NP_001366564.1:p.Arg254Trp
  • NP_001366565.1:p.Arg254Trp
  • NP_001366566.1:p.Arg254Trp
  • NP_001366567.1:p.Arg254Trp
  • NP_001366568.1:p.Arg254Trp
  • NP_001366569.1:p.Arg254Trp
  • NP_001366570.1:p.Arg254Trp
  • NP_001366571.1:p.Arg254Trp
  • NP_001366574.1:p.Arg254Trp
  • NP_001366575.1:p.Arg254Trp
  • NP_001366577.1:p.Arg254Trp
  • NP_001366578.1:p.Arg254Trp
  • NP_001366579.1:p.Arg254Trp
  • NP_001366580.1:p.Arg254Trp
  • NP_001366582.1:p.Arg254Trp
  • NP_004312.2:p.Arg254Trp
  • NP_004312.2:p.Arg254Trp
  • LRG_367t1:c.760C>T
  • LRG_367t2:c.760C>T
  • LRG_367:g.41431C>T
  • LRG_367p1:p.Arg254Trp
  • LRG_367p2:p.Arg254Trp
  • NC_000002.11:g.241723194G>A
  • NM_001244008.1:c.760C>T
  • NM_004321.5:c.760C>T
  • NM_004321.6:c.760C>T
  • NM_004321.7:c.760C>T
  • NM_001224008.1:c.760C>T
Protein change:
R254W; ARG254TRP
Links:
OMIM: 601255.0012; dbSNP: rs879253888
NCBI 1000 Genomes Browser:
rs879253888
Molecular consequence:
  • NM_001244008.2:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320705.2:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330289.2:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330290.2:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379631.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379632.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379633.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379634.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379635.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379636.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379637.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379638.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379639.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379640.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379641.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379642.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379645.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379646.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379648.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379649.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379650.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379651.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379653.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004321.8:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741095Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Feb 19, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741095.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
2Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024