NM_000444.5(PHEX):c.830T>A (p.Leu277Ter) AND Familial X-linked hypophosphatemic vitamin D refractory rickets

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 1997
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:: RCV000011563.2

Allele description

NM_000444.5(PHEX):c.830T>A (p.Leu277Ter)

Gene:

PHEX:phosphate regulating endopeptidase homolog, X-linked [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.11

Genomic location:

Preferred name:

NM_000444.5(PHEX):c.830T>A (p.Leu277Ter)

HGVS:

NC_000023.11:g.22094080T>A
NG_007563.2:g.66278T>A
NM_000444.5:c.830T>A
NP_000435.3:p.Leu277Ter
NC_000023.10:g.22112198T>A
NM_000444.4:c.830T>A

Protein change:

L274*; LEU274TER

Links:

OMIM: 300550.0004; dbSNP: rs137853268

NCBI 1000 Genomes Browser:

rs137853268

Molecular consequence:

NM_000444.5:c.830T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHR)
Synonyms:: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; Hypophosphatemic Rickets, X-Linked Dominant
Identifiers:: MedGen: C0733682; Orphanet: 89936; OMIM: 307800
Age of onset:: Childhood

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031795	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1997)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9106524, 7550339

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031795

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1997)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

Holm IA, Huang X, Kunkel LM.

Am J Hum Genet. 1997 Apr;60(4):790-7.

PubMed [citation]

PMID:: 9106524
PMCID:: PMC1712471

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.

[No authors listed]

Nat Genet. 1995 Oct;11(2):130-6.

PubMed [citation]

PMID:: 7550339

Details of each submission

From OMIM, SCV000031795.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a sporadic case of hypophosphatemia in a female (307800), Holm et al. (1997) identified an 823T-A transversion in the PHEX gene, resulting in a leu274-to-ter (L274X) substitution. (The nucleotides and amino acids were numbered on the basis of the cDNA sequence published by the HYP Consortium (1995).)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 5, 2016

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