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NM_000576.3(IL1B):c.99+383G>C AND Coronary heart disease, susceptibility to, 2

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000106291.2

Allele description [Variation Report for NM_000576.3(IL1B):c.99+383G>C]

NM_000576.3(IL1B):c.99+383G>C

Gene:
IL1B:interleukin 1 beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q14.1
Genomic location:
Preferred name:
NM_000576.3(IL1B):c.99+383G>C
HGVS:
  • NC_000002.12:g.112835183C>G
  • NG_008851.1:g.6597G>C
  • NM_000576.3:c.99+383G>CMANE SELECT
  • NC_000002.11:g.113592760C>G
  • NM_000576.2:c.99+383G>C
Links:
dbSNP: rs281864746
NCBI 1000 Genomes Browser:
rs281864746
Molecular consequence:
  • NM_000576.3:c.99+383G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Coronary heart disease, susceptibility to, 2
Synonyms:
Coronary heart disease 2
Identifiers:
MONDO: MONDO:0012009; MedGen: C1842260; OMIM: 608316

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000143748Functional Genomics, Thrombosis Research Institute, India
no classification provided
not providedsomaticnot provided

Description

The variant was detected by PCR and sequencing of a 542 bp region encompassing the rs3917356 SNP and subsequent assembly and comparison to ENSEMBLE reference sequence.

SCV000143748

Help

Summary from all submissions

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

Details of each submission

From Functional Genomics, Thrombosis Research Institute, India, SCV000143748.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022