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NM_018012.4(KIF26B):c.2023G>C (p.Asp675His) AND Autosomal dominant cerebellar ataxia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV001849233.2

Allele description [Variation Report for NM_018012.4(KIF26B):c.2023G>C (p.Asp675His)]

NM_018012.4(KIF26B):c.2023G>C (p.Asp675His)

Gene:
KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_018012.4(KIF26B):c.2023G>C (p.Asp675His)
HGVS:
  • NC_000001.11:g.245611901G>C
  • NG_053061.1:g.461917G>C
  • NM_018012.4:c.2023G>CMANE SELECT
  • NP_060482.2:p.Asp675His
  • NC_000001.10:g.245775203G>C
Protein change:
D675H
Links:
dbSNP: rs752143373
NCBI 1000 Genomes Browser:
rs752143373
Molecular consequence:
  • NM_018012.4:c.2023G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant cerebellar ataxia
Synonyms:
Spinocerebellar Ataxia, Dominant
Identifiers:
MONDO: MONDO:0020380; MedGen: C4087347; OMIM: PS164400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001960879O&I group, Department of Genetics, University Medical Center of Groningen
no assertion criteria provided
Uncertain significance
(Jul 22, 2021) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From O&I group, Department of Genetics, University Medical Center of Groningen, SCV001960879.1

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

Last Updated: Dec 24, 2023