• delete

NM_000963.3(PTGS2):c.1444G>A (p.Gly482Ser) AND Malignant melanoma

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:
RCV000064390.2

Allele description

NM_000963.3(PTGS2):c.1444G>A (p.Gly482Ser)

Gene:
PTGS2:prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.1
Genomic location:
Preferred name:
NM_000963.3(PTGS2):c.1444G>A (p.Gly482Ser)
HGVS:
  • NC_000001.11:g.186674724C>T
  • NG_028206.2:g.10704G>A
  • NM_000963.3:c.1444G>A
  • NP_000954.1:p.Gly482Ser
  • NC_000001.10:g.186643856C>T
  • NC_000001.9:g.184910479C>T
  • NG_028206.1:g.10704G>A
  • NM_000963.1:c.1444G>A
  • NM_000963.2:c.1444G>A
Protein change:
G482S
Links:
dbSNP: 267598241
NCBI 1000 Genomes Browser:
rs267598241
Molecular consequence:
  • NM_000963.3:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant melanoma
Synonyms:
Melanoma; Malignant melanoma, somatic
Identifiers:
MedGen: C0025202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000095961Samuels Laboratory; NHGRI/NIHno assertion providednot providedsomaticnot provided

Description

32T

SCV000095961

Summary from all submissions

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

Details of each submission

From Samuels Laboratory; NHGRI/NIH, SCV000095961.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided132Tnot providednot providednot providednot providednot provided

Last Updated: Jun 26, 2015