NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) AND Familial X-linked hypophosphatemic vitamin D refractory rickets

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 31, 2013
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000505405.5

Allele description [Variation Report for NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)]

NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)

Genes:

PTCHD1-AS:PTCHD1 antisense RNA (head to head) [Gene - HGNC]
PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.11

Genomic location:

Preferred name:

NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)

HGVS:

NC_000023.11:g.22219089G>A
NG_007563.2:g.191286G>A
NM_000444.6:c.1754G>AMANE SELECT
NM_001282754.2:c.1754G>A
NP_000435.3:p.Gly585Glu
NP_001269683.1:p.Gly585Glu
NC_000023.10:g.22237206G>A

Protein change:

G585E

Links:

dbSNP: rs1556135477

NCBI 1000 Genomes Browser:

rs1556135477

Molecular consequence:

NM_000444.6:c.1754G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282754.2:c.1754G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHRD)
Synonyms:: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; Hypophosphatemic Rickets, X-Linked Dominant; Hypophosphatemia, vitamin D-resistant rickets; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010619; MedGen: C0733682; Orphanet: 89936; OMIM: 307800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599648	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Oct 31, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599648

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Oct 31, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000599648.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 23, 2024

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