NM_006580.3(CLDN16):c.500T>C (p.Leu167Pro) AND Primary hypomagnesemia

Clinical significance:Pathogenic (Last evaluated: Jul 2, 1999)

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:
RCV000006293.3

Allele description

NM_006580.3(CLDN16):c.500T>C (p.Leu167Pro)

Gene:
CLDN16:claudin 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q28
Genomic location:
Preferred name:
NM_006580.3(CLDN16):c.500T>C (p.Leu167Pro)
HGVS:
  • NC_000003.12:g.190404834T>C
  • NG_008149.1:g.21783T>C
  • NM_006580.3:c.500T>C
  • NP_006571.1:p.Leu167Pro
  • NC_000003.11:g.190122623T>C
  • Q9Y5I7:p.Leu167Pro
Protein change:
L167P; LEU167PRO
Links:
UniProtKB: Q9Y5I7#VAR_008174; OMIM: 603959.0006; dbSNP: rs104893725
NCBI 1000 Genomes Browser:
rs104893725
Molecular consequence:
  • NM_006580.3:c.500T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary hypomagnesemia (HOMG3)
Synonyms:
HYPOMAGNESEMIA 3, RENAL; HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORT OF MAGNESIUM
Identifiers:
MedGen: C0268448; Orphanet: 31043; OMIM: 248250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026475OMIMno assertion criteria providedPathogenic
(Jul 2, 1999)
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

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.

Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP.

Science. 1999 Jul 2;285(5424):103-6.

PubMed [citation]
PMID:
10390358

Details of each submission

From OMIM, SCV000026475.2

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

Description

Using SSCP and sequencing, Simon et al. (1999) identified a a leu167-to-pro substitution in the PCLN1 gene in patients with primary hypomagnesemia (HOMG3; 248250).

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

Last Updated: Sep 5, 2017