NM_000388.3(CASR):c.553C>T (p.Arg185Ter) AND Neonatal severe hyperparathyroidism

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:
RCV000008850.4

Allele description [Variation Report for NM_000388.3(CASR):c.553C>T (p.Arg185Ter)]

NM_000388.3(CASR):c.553C>T (p.Arg185Ter)

Gene:
CASR:calcium sensing receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_000388.3(CASR):c.553C>T (p.Arg185Ter)
HGVS:
  • NC_000003.12:g.122261588C>T
  • NG_009058.1:g.82906C>T
  • NM_000388.3:c.553C>T
  • NP_000379.2:p.Arg185Ter
  • NC_000003.11:g.121980435C>T
Protein change:
R185*; ARG185TER
Links:
OMIM: 601199.0036; dbSNP: rs104893707
NCBI 1000 Genomes Browser:
rs104893707
Molecular consequence:
  • NM_000388.3:c.553C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029060OMIMno 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

Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.

Kobayashi M, Tanaka H, Tsuzuki K, Tsuyuki M, Igaki H, Ichinose Y, Aya K, Nishioka N, Seino Y.

J Clin Endocrinol Metab. 1997 Aug;82(8):2716-9.

PubMed [citation]
PMID:
9253359

Details of each submission

From OMIM, SCV000029060.3

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

Description

For discussion of the arg185-to-ter (R185X) mutation in the CASR gene that was found in compound heterozygous state in a child with severe neonatal hyperparathyroidism (NSHPT; 239200) by Kobayashi et al. (1997), see 601199.0020.

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

Last Updated: Jul 28, 2018