NM_001365951.3(KIF1B):c.363+6A>C AND not provided

Clinical significance:Benign (Last evaluated: Jun 22, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001706424.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.363+6A>C]

NM_001365951.3(KIF1B):c.363+6A>C

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.363+6A>C
HGVS:
  • NC_000001.11:g.10258678A>C
  • NG_008069.1:g.52973A>C
  • NM_001365951.3:c.363+6A>CMANE SELECT
  • NM_001365952.1:c.363+6A>C
  • NM_001365953.1:c.363+6A>C
  • NM_015074.3:c.363+6A>C
  • NM_183416.4:c.363+6A>C
  • LRG_252t1:c.363+6A>C
  • LRG_252t2:c.363+6A>C
  • LRG_252:g.52973A>C
  • NC_000001.10:g.10318736A>C
Links:
dbSNP: rs114084418
NCBI 1000 Genomes Browser:
rs114084418
Molecular consequence:
  • NM_001365951.3:c.363+6A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365952.1:c.363+6A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365953.1:c.363+6A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015074.3:c.363+6A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_183416.4:c.363+6A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001852303GeneDxcriteria provided, single submitter
Benign
(Jun 22, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001852303.1

#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 6, 2021

Support Center