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NC_012920.1:m.14771C>A AND Autosomal recessive spinocerebellar ataxia 20

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2016
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:
RCV000509010.1

Allele description [Variation Report for NC_012920.1:m.14771C>A]

NC_012920.1:m.14771C>A

Gene:
MT-CYB:mitochondrially encoded cytochrome b [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1:m.14771C>A
HGVS:
NC_012920.1:m.14771C>A
Links:
dbSNP: rs1556424489
NCBI 1000 Genomes Browser:
rs1556424489

Condition(s)

Name:
Autosomal recessive spinocerebellar ataxia 20
Identifiers:
MONDO: MONDO:0014601; MedGen: C5190595; Orphanet: 397709; OMIM: 616354

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492501Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
no assertion criteria provided
Uncertain significance
(Dec 22, 2016) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes5not providednot providednot providednot providedresearch

Details of each submission

From Center for Neuroscience and Cell Biology, University of Coimbra, Portugal, SCV000492501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided5not providednot providednot provided

Last Updated: Nov 19, 2022