NM_138555.4(KIF23):c.755T>A (p.Leu252His) AND Microcephaly

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000454155.1

Allele description [Variation Report for NM_138555.4(KIF23):c.755T>A (p.Leu252His)]

NM_138555.4(KIF23):c.755T>A (p.Leu252His)

Gene:
KIF23:kinesin family member 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_138555.4(KIF23):c.755T>A (p.Leu252His)
HGVS:
  • NC_000015.10:g.69426090T>A
  • NG_042269.1:g.16845T>A
  • NM_001281301.2:c.425T>A
  • NM_001367804.2:c.755T>A
  • NM_004856.7:c.755T>A
  • NM_138555.4:c.755T>A
  • NP_001268230.1:p.Leu142His
  • NP_001354733.1:p.Leu252His
  • NP_001354734.1:p.Leu266His
  • NP_004847.2:p.Leu252His
  • NP_612565.1:p.Leu252His
  • LRG_1173t1:c.755T>A
  • LRG_1173:g.16845T>A
  • LRG_1173p1:p.Leu252His
  • NC_000015.9:g.69718429T>A
  • NM_001367805.2:c.797T>A
  • NM_004856.6:c.755T>A
  • NR_160295.2:n.914T>A
  • NR_160296.2:n.914T>A
Protein change:
L142H
Links:
dbSNP: rs748016594
NCBI 1000 Genomes Browser:
rs748016594
Molecular consequence:
  • NM_001281301.2:c.425T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367804.2:c.755T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004856.7:c.755T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138555.4:c.755T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160295.2:n.914T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160296.2:n.914T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Microcephaly
Synonyms:
Reduced head circumference; Small head circumference; small calvarium; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000537920Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Likely pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]
PMID:
26539891
PMCID:
PMC4824012

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000537920.1

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

Description

KIF23 is predicted to interact with several genes previously associated with microcephaly

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Sep 7, 2021

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