NM_001365951.3(KIF1B):c.2115+6548G>A 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:
RCV000857075.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.2115+6548G>A]

NM_001365951.3(KIF1B):c.2115+6548G>A

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+6548G>A
HGVS:
  • NC_000001.11:g.10303794G>A
  • NG_008069.1:g.98089G>A
  • NM_001365951.3:c.2115+6548G>AMANE SELECT
  • NM_001365952.1:c.2115+6548G>A
  • NM_001365953.1:c.2609G>A
  • NM_015074.3:c.1977+6548G>A
  • NM_183416.4:c.2609G>A
  • NP_001352882.1:p.Gly870Glu
  • NP_904325.2:p.Gly870Glu
  • LRG_252t1:c.1977+6548G>A
  • LRG_252t2:c.2115+6548G>A
  • LRG_252:g.98089G>A
  • NC_000001.10:g.10363852G>A
  • NM_183416.3:c.2609G>A
Protein change:
G870E
Links:
dbSNP: rs781257253
NCBI 1000 Genomes Browser:
rs781257253
Molecular consequence:
  • NM_001365951.3:c.2115+6548G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365952.1:c.2115+6548G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015074.3:c.1977+6548G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365953.1:c.2609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183416.4:c.2609G>A - 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

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
SCV000999648Genesis 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, SCV000999648.1

#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

Support Center