U.S. flag

An official website of the United States government

NM_000444.6(PHEX):c.37_38del (p.Lys13fs) AND Familial X-linked hypophosphatemic vitamin D refractory rickets

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002250189.1

Allele description [Variation Report for NM_000444.6(PHEX):c.37_38del (p.Lys13fs)]

NM_000444.6(PHEX):c.37_38del (p.Lys13fs)

Gene:
PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp22.11
Genomic location:
Preferred name:
NM_000444.6(PHEX):c.37_38del (p.Lys13fs)
HGVS:
  • NC_000023.11:g.22033042_22033043del
  • NG_007563.2:g.5240_5241del
  • NM_000444.6:c.37_38delMANE SELECT
  • NM_001282754.2:c.37_38del
  • NP_000435.3:p.Lys13fs
  • NP_001269683.1:p.Lys13fs
  • NC_000023.10:g.22051160_22051161del
  • NC_000023.11:g.22033041_22033042delAA
Protein change:
K13fs
Links:
dbSNP: rs2146974254
NCBI 1000 Genomes Browser:
rs2146974254
Molecular consequence:
  • NM_000444.6:c.37_38del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282754.2:c.37_38del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002518784Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002518784.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024