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NC_012920.1(MT-ATP6):m.9035T>C AND Progressive cerebellar ataxia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 2018
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:
RCV000851177.2

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.9035T>C]

NC_012920.1(MT-ATP6):m.9035T>C

Gene:
MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ATP6):m.9035T>C
HGVS:
  • NC_012920.1:m.9035T>C
  • NC_012920.1:g.9035T>C
  • m.9035T>C
Links:
dbSNP: rs1603222000
NCBI 1000 Genomes Browser:
rs1603222000

Condition(s)

Name:
Progressive cerebellar ataxia
Identifiers:
MedGen: C0393525; Human Phenotype Ontology: HP:0002073

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000993411Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
no assertion criteria provided
Likely pathogenic
(Jun 1, 2018) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedresearch

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000993411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 8, 2024