NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr) AND Neuroblastoma

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000986233.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)]

NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)

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.3430C>T (p.His1144Tyr)
HGVS:
  • NC_000001.11:g.10339776C>T
  • NG_008069.1:g.134071C>T
  • NM_001365951.3:c.3430C>TMANE SELECT
  • NM_001365952.1:c.3430C>T
  • NM_015074.3:c.3292C>T
  • NP_001352880.1:p.His1144Tyr
  • NP_001352881.1:p.His1144Tyr
  • NP_055889.2:p.His1098Tyr
  • LRG_252t1:c.3292C>T
  • LRG_252t2:c.3430C>T
  • LRG_252:g.134071C>T
  • LRG_252p1:p.His1098Tyr
  • LRG_252p2:p.His1144Tyr
  • NC_000001.10:g.10399834C>T
Protein change:
H1098Y
Links:
dbSNP: rs1230762716
NCBI 1000 Genomes Browser:
rs1230762716
Molecular consequence:
  • NM_001365951.3:c.3430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365952.1:c.3430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015074.3:c.3292C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuroblastoma (NB)
Identifiers:
MONDO: MONDO:0005072; MeSH: D009447; MedGen: C0027819; Orphanet: 635; Human Phenotype Ontology: HP:0003006

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001135165Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001135165.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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