NM_000388.4(CASR):c.2303G>T (p.Gly768Val) AND Neonatal severe hyperparathyroidism

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2007)

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:
RCV000781967.1

Allele description [Variation Report for NM_000388.4(CASR):c.2303G>T (p.Gly768Val)]

NM_000388.4(CASR):c.2303G>T (p.Gly768Val)

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.2303G>T (p.Gly768Val)
HGVS:
  • NC_000003.12:g.122284257G>T
  • NG_009058.1:g.105575G>T
  • NM_000388.4:c.2303G>TMANE SELECT
  • NM_001178065.2:c.2333G>T
  • NP_000379.3:p.Gly768Val
  • NP_001171536.2:p.Gly778Val
  • NC_000003.11:g.122003104G>T
  • NM_000388.3:c.2303G>T
Protein change:
G768V
Links:
dbSNP: rs201858689
NCBI 1000 Genomes Browser:
rs201858689
Molecular consequence:
  • NM_000388.4:c.2303G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.2333G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neonatal severe hyperparathyroidism (NSHPT)
Identifiers:
MONDO: MONDO:0009397; MedGen: C1832615; Orphanet: 417; OMIM: 239200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000920421Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedPathogenic
(Feb 1, 2007)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.

Diaz-Thomas A, Cannon J, Iyer P, Al-Maawali A, Fazalullah M, Diamond F, Mueller OT, Root AW, Alyaarubi S.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):851-6. doi: 10.1515/jpem-2013-0343.

PubMed [citation]
PMID:
24854525

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000920421.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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