NM_001365951.3(KIF1B):c.2043-10_2043-9del AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 27, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000176097.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.2043-10_2043-9del]

NM_001365951.3(KIF1B):c.2043-10_2043-9del

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001365951.3(KIF1B):c.2043-10_2043-9del
HGVS:
  • NC_000001.11:g.10297164_10297165del
  • NG_008069.1:g.91459_91460del
  • NM_001365951.3:c.2043-10_2043-9delMANE SELECT
  • NM_001365952.1:c.2043-10_2043-9del
  • NM_001365953.1:c.1905-10_1905-9del
  • NM_015074.3:c.1905-10_1905-9del
  • NM_183416.4:c.1905-10_1905-9del
  • LRG_252t1:c.1905-10_1905-9del
  • LRG_252t2:c.2043-10_2043-9del
  • LRG_252:g.91459_91460del
  • NC_000001.10:g.10357222_10357223del
  • NM_015074.3:c.1905-10_1905-9delTT
Links:
dbSNP: rs58344165
NCBI 1000 Genomes Browser:
rs58344165
Molecular consequence:
  • NM_001365951.3:c.2043-10_2043-9del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365952.1:c.2043-10_2043-9del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365953.1:c.1905-10_1905-9del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015074.3:c.1905-10_1905-9del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_183416.4:c.1905-10_1905-9del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000227695EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Feb 27, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000227695.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 25, 2021

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