NM_001365951.3(KIF1B):c.4946+9C>T AND not specified

Clinical significance:Benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001699336.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.4946+9C>T]

NM_001365951.3(KIF1B):c.4946+9C>T

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.4946+9C>T
HGVS:
  • NC_000001.11:g.10371271C>T
  • NG_008069.1:g.165566C>T
  • NM_001365951.3:c.4946+9C>TMANE SELECT
  • NM_001365952.1:c.4946+9C>T
  • NM_015074.3:c.4808+9C>T
  • LRG_252t1:c.4808+9C>T
  • LRG_252t2:c.4946+9C>T
  • LRG_252:g.165566C>T
  • NC_000001.10:g.10431329C>T
Links:
dbSNP: rs72867431
NCBI 1000 Genomes Browser:
rs72867431
Molecular consequence:
  • NM_001365951.3:c.4946+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365952.1:c.4946+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015074.3:c.4808+9C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001925533Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001931158Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001925533.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931158.1

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

Last Updated: Nov 27, 2021

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