NC_012920.1:m.8420_8421insATA AND Bicuspid aortic valve

Clinical significance:Pathogenic

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:
RCV000768565.1

Allele description [Variation Report for NC_012920.1:m.8420_8421insATA]

NC_012920.1:m.8420_8421insATA

Gene:
MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]
Variant type:
Insertion
Genomic location:
Preferred name:
NC_012920.1:m.8420_8421insATA
HGVS:
  • NC_012920.1:m.8420_8421insATA
  • NC_012920.1:m.8420_8421insATA
  • NC_012920.1:m.8420_8421insATA
  • NC_012920.1:m.8420_8421insATA
  • NC_012920.1:m.8420_8421insATA
  • NC_012920.1:m.8420_8421insATA
  • YP_003024030.1:p.Thr19_Leu20insAsn
  • YP_003024030.1:p.Thr19_Leu20insAsn
Links:
dbSNP: rs1569484208
NCBI 1000 Genomes Browser:
rs1569484208

Condition(s)

Name:
Bicuspid aortic valve
Synonyms:
Aortic valve disease
Identifiers:
MedGen: C0149630; Human Phenotype Ontology: HP:0001647

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
SCV000845753Molecular Biology Laboratory, University of Basrahno assertion criteria providedPathogenicmaternalcase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianmaternalunknownnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Molecular Biology Laboratory, University of Basrah, SCV000845753.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasiannot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2021

Support Center