NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) AND not provided

Clinical significance:Benign

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:
RCV000143820.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)]

NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)

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.3407T>C (p.Ile1136Thr)
HGVS:
  • NC_000001.11:g.10337518T>C
  • NG_008069.1:g.131813T>C
  • NM_001365951.3:c.3407T>CMANE SELECT
  • NM_001365952.1:c.3407T>C
  • NM_015074.3:c.3269T>C
  • NP_001352880.1:p.Ile1136Thr
  • NP_001352881.1:p.Ile1136Thr
  • NP_055889.2:p.Ile1090Thr
  • LRG_252t1:c.3269T>C
  • LRG_252t2:c.3407T>C
  • LRG_252:g.131813T>C
  • LRG_252p1:p.Ile1090Thr
  • LRG_252p2:p.Ile1136Thr
  • NC_000001.10:g.10397576T>C
Protein change:
I1090T
Links:
dbSNP: rs374098797
NCBI 1000 Genomes Browser:
rs374098797
Molecular consequence:
  • NM_001365951.3:c.3407T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365952.1:c.3407T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015074.3:c.3269T>C - 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
SCV000188714Northcott Neuroscience Laboratory, ANZAC Research Instituteno assertion criteria providednon-pathogenicnot providednot provided

Description

CMT2

SCV000188714

Summary from all submissions

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

Details of each submission

From Northcott Neuroscience Laboratory, ANZAC Research Institute, SCV000188714.1

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

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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