• delete

NM_000228.2(LAMB3):c.2432G>A (p.Gly811Asp) 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:
RCV000060072.2

Allele description

NM_000228.2(LAMB3):c.2432G>A (p.Gly811Asp)

Genes:
LAMB3:laminin, beta 3 [Gene - OMIM]
MIR4260:microRNA 4260 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.2(LAMB3):c.2432G>A (p.Gly811Asp)
HGVS:
  • NC_000001.11:g.209623106C>T
  • NG_007116.1:g.34370G>A
  • NM_000228.2:c.2432G>A
  • NM_001017402.1:c.2432G>A
  • NM_001127641.1:c.2432G>A
  • NP_000219.2:p.Gly811Asp
  • NP_001017402.1:p.Gly811Asp
  • NP_001121113.1:p.Gly811Asp
  • NC_000001.10:g.209796451C>T
  • NC_000001.9:g.207863074C>T
  • NR_036213.1:n.405G>A
  • NR_036213.1:c.67+d338G>A
Protein change:
G811D
Links:
dbSNP: 144275374
NCBI 1000 Genomes Browser:
rs144275374
Molecular consequence:
  • NR_036213.1:n.405G>A - 500B downstream variant - [Sequence Ontology: SO:0001634]
  • NM_000228.2:c.2432G>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
SCV000091642Samuels Laboratory; NHGRI/NIHno assertion providednot providedsomaticnot provided

Description

05T

SCV000091642

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, SCV000091642.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided105Tnot providednot providednot providednot providednot provided

Last Updated: Jul 3, 2015