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NM_014980.2(STXBP5L):c.189+20745C>T AND Lung cancer

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000092854.1

Allele description

NM_014980.2(STXBP5L):c.189+20745C>T

Gene:
STXBP5L:syntaxin binding protein 5-like [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
3q13.33
Genomic location:
Preferred name:
NM_014980.2(STXBP5L):c.189+20745C>T
HGVS:
  • NC_000003.12:g.120930512C>T
  • NM_014980.2:c.189+20745C>T
  • NC_000003.11:g.120649359C>T
Links:
dbSNP: rs207463668
NCBI 1000 Genomes Browser:
rs207463668
Molecular consequence:
  • NM_014980.2:c.189+20745C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Lung cancer
Synonyms:
Lung cancer, somatic
Identifiers:
MedGen: C0684249; OMIM: 211980

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000125342Leeds Institute of Molecular Medicine (LIMM)
no assertion criteria provided
unknownsomaticnot provided

Help

Summary from all submissions

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

Details of each submission

From Leeds Institute of Molecular Medicine (LIMM), SCV000125342.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2015