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NC_012920.1(MT-CYB):m.8272CCCCCTCTA[1] AND Mitochondrial inheritance

Germline classification:
Uncertain significance (1 submission)
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:
RCV002052285.1

Allele description [Variation Report for NC_012920.1(MT-CYB):m.8272CCCCCTCTA[1]]

NC_012920.1(MT-CYB):m.8272CCCCCTCTA[1]

Variant type:
Microsatellite
Genomic location:
Preferred name:
NC_012920.1(MT-CYB):m.8272CCCCCTCTA[1]
HGVS:
  • NC_012920.1:m.8272CCCCCTCTA[1]
  • NC_012920.1:m.8271_8279delACCCCCTCT
Links:
dbSNP: rs369704279
NCBI 1000 Genomes Browser:
rs369704279

Condition(s)

Name:
Mitochondrial inheritance
Identifiers:
MedGen: C0887941; Human Phenotype Ontology: HP:0001427

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002107184Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
no assertion criteria provided
Uncertain significancematernalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, SCV002107184.1

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

Last Updated: Jul 15, 2024