NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) AND Aortic valve disease 1

Clinical significance:Uncertain significance (Last evaluated: Jun 4, 2020)

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:
RCV000770955.3

Allele description [Variation Report for NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)]

NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)

Gene:
SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)
HGVS:
  • NC_000015.10:g.66703950G>C
  • NG_012244.1:g.6615G>C
  • NG_012244.2:g.6615G>C
  • NM_005585.5:c.692G>CMANE SELECT
  • NP_005576.3:p.Arg231Pro
  • NC_000015.9:g.66996288G>C
  • NM_005585.4:c.692G>C
  • NR_027654.2:n.1715G>C
Protein change:
R231P
Links:
dbSNP: rs1419095990
NCBI 1000 Genomes Browser:
rs1419095990
Molecular consequence:
  • NM_005585.5:c.692G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027654.2:n.1715G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000854417Centre of Medical Genetics, University of Antwerpno assertion criteria providedUncertain significance
(Jun 4, 2020)
inheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Centre of Medical Genetics, University of Antwerp, SCV000854417.2

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

Last Updated: Sep 29, 2021

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