NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) AND Hypocalcemia, autosomal dominant 1

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1997)

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:
RCV000008830.5

Allele description [Variation Report for NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)]

NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)

Gene:
CASR:calcium sensing receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)
HGVS:
  • NC_000003.12:g.122284272T>G
  • NG_009058.1:g.105590T>G
  • NM_000388.4:c.2318T>G
  • NM_001178065.2:c.2348T>G
  • NP_000379.2:p.Leu773Arg
  • NP_000379.3:p.Leu773Arg
  • NP_001171536.2:p.Leu783Arg
  • NC_000003.11:g.122003119T>G
  • NM_000388.3:c.2318T>G
Protein change:
L773R; LEU773ARG
Links:
OMIM: 601199.0019; dbSNP: rs104893699
NCBI 1000 Genomes Browser:
rs104893699
Molecular consequence:
  • NM_000388.4:c.2318T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.2348T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypocalcemia, autosomal dominant 1 (HYPOC1)
Synonyms:
HYPERCALCIURIC HYPOCALCEMIA; HYPOCALCEMIA, FAMILIAL
Identifiers:
MedGen: C0342345; OMIM: 601198

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029040OMIMno assertion criteria providedPathogenic
(Aug 1, 1997)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

De Luca F, Ray K, Mancilla EE, Fan GF, Winer KK, Gore P, Spiegel AM, Baron J.

J Clin Endocrinol Metab. 1997 Aug;82(8):2710-5.

PubMed [citation]
PMID:
9253358

Details of each submission

From OMIM, SCV000029040.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

De Luca et al. (1997) described a patient with sporadic hypoparathyroidism (HYPOC1; 601198), who presented with mild symptoms at age 18 years. The patient was heterozygous for a leu773-to-arg (L773R) mutation in the CASR gene that involved the fifth transmembrane domain. The proband's parents lacked the corresponding mutation, indicating that the mutation arose de novo.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 17, 2019

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