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NM_000444.6(PHEX):c.663+1G>T AND Hypophosphatemic rickets

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 7, 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:
RCV001843334.3

Allele description [Variation Report for NM_000444.6(PHEX):c.663+1G>T]

NM_000444.6(PHEX):c.663+1G>T

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.663+1G>T
HGVS:
  • NC_000023.11:g.22077703G>T
  • NG_007563.2:g.49901G>T
  • NG_007563.3:g.50380G>T
  • NM_000444.6:c.663+1G>TMANE SELECT
  • NM_001282754.2:c.663+1G>T
  • NC_000023.10:g.22095821G>T
Links:
dbSNP: rs1556020845
NCBI 1000 Genomes Browser:
rs1556020845
Molecular consequence:
  • NM_000444.6:c.663+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282754.2:c.663+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Hypophosphatemic rickets
Identifiers:
MONDO: MONDO:0024300; MeSH: D063730; MedGen: C1704375; Human Phenotype Ontology: HP:0004912

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073711Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 7, 2022) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Genetic and clinical profile of patients with hypophosphatemic rickets.

Marik B, Bagga A, Sinha A, Khandelwal P, Hari P, Sharma A.

Eur J Med Genet. 2022 Aug;65(8):104540. doi: 10.1016/j.ejmg.2022.104540. Epub 2022 Jun 21.

PubMed [citation]
PMID:
35738466

Details of each submission

From Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi, SCV002073711.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024