U.S. flag

An official website of the United States government

GRCh37/hg19 19p12(chr19:20834979-20987550) AND Aortic valve disease 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 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:
RCV000770944.2

Allele description [Variation Report for GRCh37/hg19 19p12(chr19:20834979-20987550)]

GRCh37/hg19 19p12(chr19:20834979-20987550)

Gene:
ZNF626:zinc finger protein 626 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p12
Genomic location:
Chr19: 20826692 - 21001965 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19p12(chr19:20834979-20987550)

Condition(s)

Name:
Aortic valve disease 1 (AOVD1)
Identifiers:
MONDO: MONDO:0024523; MedGen: C3887892; OMIM: 109730

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854406Centre of Medical Genetics, University of Antwerp
no assertion criteria provided
Uncertain significance
(Nov 14, 2018) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Centre of Medical Genetics, University of Antwerp, SCV000854406.1

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

Last Updated: Dec 11, 2022