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NM_000230.3(LEP):c.*150G>A AND Obesity due to congenital leptin deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000400114.5

Allele description [Variation Report for NM_000230.3(LEP):c.*150G>A]

NM_000230.3(LEP):c.*150G>A

Gene:
LEP:leptin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_000230.3(LEP):c.*150G>A
HGVS:
  • NC_000007.14:g.128254913G>A
  • NG_007450.1:g.18636G>A
  • NM_000230.3:c.*150G>AMANE SELECT
  • NC_000007.13:g.127894966G>A
  • NM_000230.2:c.*150G>A
Links:
dbSNP: rs28954115
NCBI 1000 Genomes Browser:
rs28954115
Molecular consequence:
  • NM_000230.3:c.*150G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Obesity due to congenital leptin deficiency
Synonyms:
Leptin deficiency or dysfunction
Identifiers:
MONDO: MONDO:0013991; MedGen: C3554224; Orphanet: 66628; OMIM: 614962

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000466635Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000466635.2

#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: Aug 25, 2024