NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser) AND Charcot-Marie-Tooth disease

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2019)

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:
RCV000857070.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser)]

NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser)

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.398A>G (p.Asn133Ser)
HGVS:
  • NC_000001.11:g.10261939A>G
  • NG_008069.1:g.56234A>G
  • NM_001365951.3:c.398A>GMANE SELECT
  • NM_001365952.1:c.398A>G
  • NM_001365953.1:c.398A>G
  • NM_015074.3:c.398A>G
  • NM_183416.4:c.398A>G
  • NP_001352880.1:p.Asn133Ser
  • NP_001352881.1:p.Asn133Ser
  • NP_001352882.1:p.Asn133Ser
  • NP_055889.2:p.Asn133Ser
  • NP_904325.2:p.Asn133Ser
  • LRG_252t1:c.398A>G
  • LRG_252t2:c.398A>G
  • LRG_252:g.56234A>G
  • LRG_252p1:p.Asn133Ser
  • LRG_252p2:p.Asn133Ser
  • NC_000001.10:g.10321997A>G
Protein change:
N133S
Links:
dbSNP: rs1569614217
NCBI 1000 Genomes Browser:
rs1569614217
Molecular consequence:
  • NM_001365951.3:c.398A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365952.1:c.398A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365953.1:c.398A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015074.3:c.398A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183416.4:c.398A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000999643Genesis Genome Databaseno assertion criteria providedUncertain significance
(Aug 14, 2019)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genesis Genome Database, SCV000999643.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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