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NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) AND Familial X-linked hypophosphatemic vitamin D refractory rickets

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 6, 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:
RCV000505458.5

Allele description [Variation Report for NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)]

NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)

Gene:
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.1523A>C (p.Gln508Pro)
HGVS:
  • NC_000023.11:g.22178313A>C
  • NG_007563.2:g.150510A>C
  • NM_000444.6:c.1523A>CMANE SELECT
  • NM_001282754.2:c.1523A>C
  • NP_000435.3:p.Gln508Pro
  • NP_001269683.1:p.Gln508Pro
  • NC_000023.10:g.22196430A>C
Protein change:
Q508P
Links:
dbSNP: rs1556070890
NCBI 1000 Genomes Browser:
rs1556070890
Molecular consequence:
  • NM_000444.6:c.1523A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282754.2:c.1523A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599672Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Nov 6, 2013) 		maternal, germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes2not providednot provided2not providedclinical testing
not providedgermlineyes3not providednot provided3not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000599672.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3not provided1not providednot providedclinical testingnot provided
4not provided1not providednot providedclinical testingnot provided
5not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided1not providednot providednot provided
2germlineyes1bloodnot provided1not providednot providednot provided
3germlineyes1bloodnot provided1not providednot providednot provided
4maternalyes1bloodnot provided1not providednot providednot provided
5germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024