NM_001168357.1(PLA2G7):c.1136T>C (p.Val379Ala) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000049574.1

Allele description [Variation Report for NM_001168357.1(PLA2G7):c.1136T>C (p.Val379Ala)]

NM_001168357.1(PLA2G7):c.1136T>C (p.Val379Ala)

Gene:
PLA2G7:phospholipase A2 group VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_001168357.1(PLA2G7):c.1136T>C (p.Val379Ala)
HGVS:
  • NC_000006.12:g.46705206A>G
  • NG_016204.1:g.35488T>C
  • NM_001168357.1:c.1136T>C
  • NP_001161829.1:p.Val379Ala
  • NC_000006.11:g.46672943A>G
  • Q13093:p.Val379Ala
Protein change:
A379V; ALA379VAL
Links:
UniProtKB: Q13093#VAR_011586; OMIM: 601690.0003; dbSNP: rs1051931
NCBI 1000 Genomes Browser:
rs1051931
Molecular consequence:
  • NM_001168357.1:c.1136T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082634Lab. of Molecular Biology of Arterial Hypertension University of Padovano assertion providednot providedunknownnot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Lab. of Molecular Biology of Arterial Hypertension University of Padova, SCV000082634.1

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

Last Updated: Mar 30, 2019

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