NM_001365951.3(KIF1B):c.2115+6213G>T AND not provided

Clinical significance:Likely pathogenic

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000143826.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.2115+6213G>T]

NM_001365951.3(KIF1B):c.2115+6213G>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.2115+6213G>T
HGVS:
  • NC_000001.11:g.10303459G>T
  • NG_008069.1:g.97754G>T
  • NM_001365951.3:c.2115+6213G>TMANE SELECT
  • NM_001365952.1:c.2115+6213G>T
  • NM_001365953.1:c.2274G>T
  • NM_015074.3:c.1977+6213G>T
  • NM_183416.4:c.2274G>T
  • NP_001352882.1:p.Glu758Asp
  • NP_904325.2:p.Glu758Asp
  • LRG_252t1:c.1977+6213G>T
  • LRG_252t2:c.2115+6213G>T
  • LRG_252:g.97754G>T
  • NC_000001.10:g.10363517G>T
  • NM_183416.3:c.2274G>T
Protein change:
E758D
Links:
dbSNP: rs587777883
NCBI 1000 Genomes Browser:
rs587777883
Molecular consequence:
  • NM_001365951.3:c.2115+6213G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365952.1:c.2115+6213G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015074.3:c.1977+6213G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365953.1:c.2274G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183416.4:c.2274G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188721Northcott Neuroscience Laboratory, ANZAC Research Instituteno assertion criteria providedprobable-pathogenicgermlinenot provided

Description

Family O

SCV000188721

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Northcott Neuroscience Laboratory, ANZAC Research Institute, SCV000188721.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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