U.S. flag

An official website of the United States government

NM_014276.4(RBPJL):c.132-389T>C AND Type 2 diabetes mellitus

Germline classification:
Benign (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:
RCV000626350.5

Allele description [Variation Report for NM_014276.4(RBPJL):c.132-389T>C]

NM_014276.4(RBPJL):c.132-389T>C

Gene:
RBPJL:recombination signal binding protein for immunoglobulin kappa J region like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_014276.4(RBPJL):c.132-389T>C
HGVS:
  • NC_000020.11:g.45309178T>C
  • NG_033953.1:g.4352A>G
  • NM_001281448.2:c.132-389T>C
  • NM_001281449.2:c.132-389T>C
  • NM_014276.4:c.132-389T>CMANE SELECT
  • NC_000020.10:g.43937818T>C
Links:
dbSNP: rs2076027
NCBI 1000 Genomes Browser:
rs2076027
Molecular consequence:
  • NM_001281448.2:c.132-389T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281449.2:c.132-389T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014276.4:c.132-389T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Type 2 diabetes mellitus
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608412Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health
no assertion criteria provided
Benigngermlinecase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
American Indiangermlineyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health, SCV000608412.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1American Indiannot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024