NM_000237.3(LPL):c.213C>G (p.His71Gln) AND Hyperlipoproteinemia, type I

Clinical significance:Likely benign (Last evaluated: Jan 10, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001272627.1

Allele description [Variation Report for NM_000237.3(LPL):c.213C>G (p.His71Gln)]

NM_000237.3(LPL):c.213C>G (p.His71Gln)

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.213C>G (p.His71Gln)
HGVS:
  • NC_000008.11:g.19948304C>G
  • NG_008855.1:g.14234C>G
  • NG_008855.2:g.51588C>G
  • NM_000237.3:c.213C>GMANE SELECT
  • NP_000228.1:p.His71Gln
  • LRG_1298t1:c.213C>G
  • LRG_1298:g.51588C>G
  • LRG_1298p1:p.His71Gln
  • NC_000008.10:g.19805815C>G
  • NM_000237.2:c.213C>G
Protein change:
H71Q
Links:
dbSNP: rs11542065
NCBI 1000 Genomes Browser:
rs11542065
Molecular consequence:
  • NM_000237.3:c.213C>G - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001454750Natera, Inc.no assertion criteria providedLikely benign
(Jan 10, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001454750.1

#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: Sep 10, 2021

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