• delete

NM_000134.3(FABP2):c.380G>A (p.Arg127Lys) 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:
RCV000074317.2

Allele description

NM_000134.3(FABP2):c.380G>A (p.Arg127Lys)

Gene:
FABP2:fatty acid binding protein 2, intestinal [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_000134.3(FABP2):c.380G>A (p.Arg127Lys)
HGVS:
  • NC_000004.12:g.119319060C>T
  • NG_011444.1:g.8102G>A
  • NM_000134.3:c.380G>A
  • NP_000125.2:p.Arg127Lys
  • NC_000004.10:g.120459663C>T
  • NC_000004.11:g.120240215C>T
  • NM_000134.2:c.380G>A
Protein change:
R127K
Links:
dbSNP: 267600002
NCBI 1000 Genomes Browser:
rs267600002
Molecular consequence:
  • NM_000134.3:c.380G>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
SCV000097839Samuels Laboratory; NHGRI/NIHno assertion providednot providedsomaticnot provided

Description

81T

SCV000097839

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, SCV000097839.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided181Tnot providednot providednot providednot providednot provided

Last Updated: Jun 26, 2015