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NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) AND See cases

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001568399.2

Allele description [Variation Report for NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)]

NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)

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.37C>T (p.Arg13Cys)
HGVS:
  • NC_000002.12:g.240797716G>A
  • NG_029724.1:g.27492C>T
  • NM_001244008.2:c.37C>TMANE SELECT
  • NM_001320705.2:c.37C>T
  • NM_001330289.2:c.37C>T
  • NM_001330290.2:c.37C>T
  • NM_001379631.1:c.37C>T
  • NM_001379632.1:c.37C>T
  • NM_001379633.1:c.37C>T
  • NM_001379634.1:c.37C>T
  • NM_001379635.1:c.37C>T
  • NM_001379636.1:c.37C>T
  • NM_001379637.1:c.37C>T
  • NM_001379638.1:c.37C>T
  • NM_001379639.1:c.37C>T
  • NM_001379640.1:c.37C>T
  • NM_001379641.1:c.37C>T
  • NM_001379642.1:c.37C>T
  • NM_001379645.1:c.37C>T
  • NM_001379646.1:c.37C>T
  • NM_001379648.1:c.37C>T
  • NM_001379649.1:c.37C>T
  • NM_001379650.1:c.37C>T
  • NM_001379651.1:c.37C>T
  • NM_001379653.1:c.37C>T
  • NM_004321.8:c.37C>T
  • NP_001230937.1:p.Arg13Cys
  • NP_001307634.1:p.Arg13Cys
  • NP_001317218.1:p.Arg13Cys
  • NP_001317219.1:p.Arg13Cys
  • NP_001366560.1:p.Arg13Cys
  • NP_001366561.1:p.Arg13Cys
  • NP_001366562.1:p.Arg13Cys
  • NP_001366563.1:p.Arg13Cys
  • NP_001366564.1:p.Arg13Cys
  • NP_001366565.1:p.Arg13Cys
  • NP_001366566.1:p.Arg13Cys
  • NP_001366567.1:p.Arg13Cys
  • NP_001366568.1:p.Arg13Cys
  • NP_001366569.1:p.Arg13Cys
  • NP_001366570.1:p.Arg13Cys
  • NP_001366571.1:p.Arg13Cys
  • NP_001366574.1:p.Arg13Cys
  • NP_001366575.1:p.Arg13Cys
  • NP_001366577.1:p.Arg13Cys
  • NP_001366578.1:p.Arg13Cys
  • NP_001366579.1:p.Arg13Cys
  • NP_001366580.1:p.Arg13Cys
  • NP_001366582.1:p.Arg13Cys
  • NP_004312.2:p.Arg13Cys
  • LRG_367:g.27492C>T
  • NC_000002.11:g.241737133G>A
  • NM_001244008.1:c.37C>T
  • NM_004321.6:c.37C>T
Protein change:
R13C
Links:
dbSNP: rs1064794935
NCBI 1000 Genomes Browser:
rs1064794935
Molecular consequence:
  • NM_001244008.2:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320705.2:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330289.2:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330290.2:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379631.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379632.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379633.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379634.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379635.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379636.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379637.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379638.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379639.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379640.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379641.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379642.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379645.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379646.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379648.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379649.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379650.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379651.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379653.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004321.8:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001754550DECIPHER, Wellcome Sanger Institute
no classification provided
not providedde novoresearch

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From DECIPHER, Wellcome Sanger Institute, SCV001754550.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

"PM2: moderate, PP2: supporting, PS1: strong, PS2: strong"

PubMed [ID: 25741868]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024