NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr) AND Charcot-Marie-Tooth disease

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001173591.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr)]

NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr)

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr)
HGVS:
  • NC_000001.11:g.10334638G>A
  • NG_008069.1:g.128933G>A
  • NM_001365951.3:c.3043G>AMANE SELECT
  • NM_001365952.1:c.3043G>A
  • NM_015074.3:c.2905G>A
  • NP_001352880.1:p.Ala1015Thr
  • NP_001352881.1:p.Ala1015Thr
  • NP_055889.2:p.Ala969Thr
  • LRG_252t1:c.2905G>A
  • LRG_252t2:c.3043G>A
  • LRG_252:g.128933G>A
  • LRG_252p1:p.Ala969Thr
  • LRG_252p2:p.Ala1015Thr
  • NC_000001.10:g.10394696G>A
Protein change:
A1015T
Links:
dbSNP: rs200614254
NCBI 1000 Genomes Browser:
rs200614254
Molecular consequence:
  • NM_001365951.3:c.3043G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365952.1:c.3043G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015074.3:c.2905G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001336690Molecular Genetics Laboratory,London Health Sciences Centrecriteria provided, single submitter
Uncertain significancegermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Molecular Genetics Laboratory,London Health Sciences Centre, SCV001336690.1

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

Last Updated: Oct 30, 2021

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