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NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) AND Hereditary spastic paraplegia 30

Germline classification:
Pathogenic (1 submission)
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:
RCV001391594.1

Allele description [Variation Report for NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)]

NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)

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.223C>T (p.Arg75Trp)
HGVS:
  • NC_000002.12:g.240788191G>A
  • NG_029724.1:g.37017C>T
  • NM_001244008.2:c.223C>TMANE SELECT
  • NM_001320705.2:c.223C>T
  • NM_001330289.2:c.223C>T
  • NM_001330290.2:c.223C>T
  • NM_001379631.1:c.223C>T
  • NM_001379632.1:c.223C>T
  • NM_001379633.1:c.223C>T
  • NM_001379634.1:c.223C>T
  • NM_001379635.1:c.223C>T
  • NM_001379636.1:c.223C>T
  • NM_001379637.1:c.223C>T
  • NM_001379638.1:c.223C>T
  • NM_001379639.1:c.223C>T
  • NM_001379640.1:c.223C>T
  • NM_001379641.1:c.223C>T
  • NM_001379642.1:c.223C>T
  • NM_001379645.1:c.223C>T
  • NM_001379646.1:c.223C>T
  • NM_001379648.1:c.223C>T
  • NM_001379649.1:c.223C>T
  • NM_001379650.1:c.223C>T
  • NM_001379651.1:c.223C>T
  • NM_001379653.1:c.223C>T
  • NM_004321.8:c.223C>T
  • NP_001230937.1:p.Arg75Trp
  • NP_001230937.1:p.Arg75Trp
  • NP_001307634.1:p.Arg75Trp
  • NP_001317218.1:p.Arg75Trp
  • NP_001317219.1:p.Arg75Trp
  • NP_001366560.1:p.Arg75Trp
  • NP_001366561.1:p.Arg75Trp
  • NP_001366562.1:p.Arg75Trp
  • NP_001366563.1:p.Arg75Trp
  • NP_001366564.1:p.Arg75Trp
  • NP_001366565.1:p.Arg75Trp
  • NP_001366566.1:p.Arg75Trp
  • NP_001366567.1:p.Arg75Trp
  • NP_001366568.1:p.Arg75Trp
  • NP_001366569.1:p.Arg75Trp
  • NP_001366570.1:p.Arg75Trp
  • NP_001366571.1:p.Arg75Trp
  • NP_001366574.1:p.Arg75Trp
  • NP_001366575.1:p.Arg75Trp
  • NP_001366577.1:p.Arg75Trp
  • NP_001366578.1:p.Arg75Trp
  • NP_001366579.1:p.Arg75Trp
  • NP_001366580.1:p.Arg75Trp
  • NP_001366582.1:p.Arg75Trp
  • NP_004312.2:p.Arg75Trp
  • NP_004312.2:p.Arg75Trp
  • LRG_367t1:c.223C>T
  • LRG_367t2:c.223C>T
  • LRG_367:g.37017C>T
  • LRG_367p1:p.Arg75Trp
  • LRG_367p2:p.Arg75Trp
  • NC_000002.11:g.241727608G>A
  • NM_001244008.1:c.223C>T
  • NM_004321.6:c.223C>T
  • NM_004321.7:c.223C>T
Protein change:
R75W
Links:
dbSNP: rs778224699
NCBI 1000 Genomes Browser:
rs778224699
Molecular consequence:
  • NM_001244008.2:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320705.2:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330289.2:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330290.2:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379631.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379632.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379633.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379634.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379635.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379636.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379637.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379638.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379639.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379640.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379641.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379642.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379645.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379646.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379648.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379649.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379650.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379651.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379653.1:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004321.8:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Hereditary spastic paraplegia 30
Synonyms:
Spastic paraplegia 30, autosomal recessive; SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0012476; MedGen: C5235139; Orphanet: 101010; OMIM: 610357

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451077Paris Brain Institute, Inserm - ICM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedclinical testing

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 Paris Brain Institute, Inserm - ICM, SCV001451077.1

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

Last Updated: Oct 13, 2024