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NM_000237.3(LPL):c.1019-2A>T AND Hyperlipoproteinemia, type I

Germline classification:
Pathogenic (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:
RCV002260532.2

Allele description [Variation Report for NM_000237.3(LPL):c.1019-2A>T]

NM_000237.3(LPL):c.1019-2A>T

Gene:
LPL:lipoprotein lipase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_000237.3(LPL):c.1019-2A>T
HGVS:
  • NC_000008.11:g.19959258A>T
  • NG_008855.2:g.62542A>T
  • NM_000237.3:c.1019-2A>TMANE SELECT
  • LRG_1298t1:c.1019-2A>T
  • LRG_1298:g.62542A>T
  • NC_000008.10:g.19816769A>T
  • NM_000237.2:c.1019-2A>T
Links:
dbSNP: rs767366957
NCBI 1000 Genomes Browser:
rs767366957
Molecular consequence:
  • NM_000237.3:c.1019-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hyperlipoproteinemia, type I
Synonyms:
HYPERLIPOPROTEINEMIA, TYPE IA; Lipase D deficiency; Hyperlipoproteinemia type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009387; MedGen: C0023817; Orphanet: 444490; OMIM: 238600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002540195Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
no assertion criteria provided
Pathogenicbiparentalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002540195.1

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

Last Updated: Aug 18, 2024