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NM_138711.6(PPARG):c.-8-29880A>T AND Type 2 diabetes mellitus

Germline classification:
association (1 submission)
Last evaluated:
Jan 12, 2016
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:
RCV000508756.3

Allele description [Variation Report for NM_138711.6(PPARG):c.-8-29880A>T]

NM_138711.6(PPARG):c.-8-29880A>T

Gene:
PPARG:peroxisome proliferator activated receptor gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_138711.6(PPARG):c.-8-29880A>T
HGVS:
  • NC_000003.12:g.12349824A>T
  • NG_011749.1:g.66975A>T
  • NM_001330615.4:c.-8-29880A>T
  • NM_001354666.3:c.-8-29880A>T
  • NM_001354667.3:c.-8-29880A>T
  • NM_001354669.2:c.-435-29880A>T
  • NM_001354670.2:c.-2-29880A>T
  • NM_001374261.3:c.-8-29880A>T
  • NM_001374262.3:c.-9+4930A>T
  • NM_001374263.2:c.-8-29880A>T
  • NM_001374264.2:c.-8-29880A>T
  • NM_001374266.1:c.-2-29880A>T
  • NM_005037.7:c.-8-29880A>T
  • NM_138711.6:c.-8-29880A>TMANE SELECT
  • NM_138712.5:c.-8-29880A>T
  • NC_000003.11:g.12391323A>T
Links:
dbSNP: rs1553638909
NCBI 1000 Genomes Browser:
rs1553638909
Molecular consequence:
  • NM_001330615.4:c.-8-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354666.3:c.-8-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354667.3:c.-8-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354669.2:c.-435-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354670.2:c.-2-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374261.3:c.-8-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374262.3:c.-9+4930A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374263.2:c.-8-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374264.2:c.-8-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374266.1:c.-2-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005037.7:c.-8-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_138711.6:c.-8-29880A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_138712.5:c.-8-29880A>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000606728Obstetrics and Gynaecology Department, Chinese University of Hong Kong
no assertion criteria provided
association
(Jan 12, 2016) 		unknowncase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedcase-control

Details of each submission

From Obstetrics and Gynaecology Department, Chinese University of Hong Kong, SCV000606728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcase-control
(GTR000509672.3)		not provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided
(GTR000509672.3)		1not providednot providednot provided

Last Updated: Apr 15, 2024