NM_001365951.2(KIF1B):c.*249_*250CA[15] AND Pheochromocytoma

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000370742.2

Allele description [Variation Report for NM_001365951.2(KIF1B):c.*249_*250CA[15]]

NM_001365951.2(KIF1B):c.*249_*250CA[15]

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001365951.2(KIF1B):c.*249_*250CA[15]
HGVS:
  • NC_000001.11:g.10376836_10376837CA[15]
  • NG_008069.1:g.171131_171132CA[15]
  • NM_001365951.2:c.*249_*250CA[15]
  • NM_001365952.1:c.*249_*250CA[15]
  • LRG_252t1:c.*249_*250CA[15]
  • LRG_252t1:c.*279_*280del
  • LRG_252:g.171131_171132CA[15]
  • NC_000001.10:g.10436894_10436895CA[15]
  • NM_015074.3:c.*249_*250CA[15]
  • NM_015074.3:c.*279_*280delCA
Links:
dbSNP: rs111663673
NCBI 1000 Genomes Browser:
rs111663673
Molecular consequence:
  • NM_001365951.2:c.*249_*250CA[15] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001365952.1:c.*249_*250CA[15] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Pheochromocytoma
Synonyms:
Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000346764Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000346764.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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