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NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro) AND Primary hypomagnesemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000006299.4

Allele description [Variation Report for NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro)]

NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro)

Gene:
CLDN16:claudin 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q28
Genomic location:
Preferred name:
NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro)
Other names:
L145P
HGVS:
  • NC_000003.12:g.190404768T>C
  • NG_008149.1:g.21717T>C
  • NM_001378492.1:c.224T>C
  • NM_001378493.1:c.224T>C
  • NM_006580.4:c.224T>CMANE SELECT
  • NP_001365421.1:p.Leu75Pro
  • NP_001365422.1:p.Leu75Pro
  • NP_006571.2:p.Leu75Pro
  • NC_000003.11:g.190122557T>C
  • Q9Y5I7:p.Leu145Pro
Protein change:
L75P; LEU145PRO
Links:
UniProtKB: Q9Y5I7#VAR_017229; OMIM: 603959.0012; dbSNP: rs104893731
NCBI 1000 Genomes Browser:
rs104893731
Molecular consequence:
  • NM_001378492.1:c.224T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378493.1:c.224T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006580.4:c.224T>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; Magnesium, defect in renal tubular transport of; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009550; MedGen: C0268448; Orphanet: 31043; OMIM: 248250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026481OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2000) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.

Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M.

Eur J Hum Genet. 2000 Jun;8(6):414-22.

PubMed [citation]
PMID:
10878661

Details of each submission

From OMIM, SCV000026481.3

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

Description

In a family with primary hypomagnesemia with hypercalciuria and nephrocalcinosis (HOMG3; 248250), Weber et al. (2000) found compound heterozygosity for a leu151-to-phe mutation (603959.0010) and a leu145-to-pro mutation in the CLDN16 gene.

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

Last Updated: Sep 29, 2024