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NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs) AND Autosomal recessive hypophosphatemic bone disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 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:
RCV000513307.6

Allele description [Variation Report for NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs)]

NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs)

Gene:
SLC34A3:solute carrier family 34 member 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs)
HGVS:
  • NC_000009.12:g.137236255_137236268del
  • NG_017008.2:g.10355_10368del
  • NM_001177316.2:c.1639_1652delMANE SELECT
  • NM_001177317.2:c.1639_1652del
  • NM_080877.3:c.1639_1652del
  • NP_001170787.2:p.Arg547fs
  • NP_001170788.2:p.Arg547fs
  • NP_543153.2:p.Arg547fs
  • NC_000009.11:g.140130707_140130720del
Protein change:
R547fs
Links:
dbSNP: rs1554785389
NCBI 1000 Genomes Browser:
rs1554785389
Molecular consequence:
  • NM_001177316.2:c.1639_1652del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177317.2:c.1639_1652del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080877.3:c.1639_1652del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Name:
Autosomal recessive hypophosphatemic bone disease (HHRH)
Synonyms:
HYPERCALCIURIC RICKETS; Hypophosphatemic rickets with hypercalciuria
Identifiers:
MONDO: MONDO:0009431; MedGen: C1853271; Orphanet: 157215; OMIM: 241530

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608400Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Nov 19, 2013) 		paternalclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes2not providednot provided2not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000608400.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1bloodnot provided1not providednot providednot provided
2paternalyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024