U.S. flag

An official website of the United States government

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

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000188721Northcott Neuroscience Laboratory, ANZAC Research Institute
no assertion criteria provided
probable-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 25, 2023