NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) AND Low alkaline phosphatase

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000515710.1

Allele description [Variation Report for NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)]

NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)

Gene:
ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)
HGVS:
  • NC_000001.11:g.21577631_21577632del
  • NG_008940.1:g.73267_73268del
  • NM_000478.6:c.1558_1559delMANE SELECT
  • NM_001127501.4:c.1393_1394del
  • NM_001177520.3:c.1327_1328del
  • NM_001369803.2:c.1558_1559del
  • NM_001369804.2:c.1558_1559del
  • NM_001369805.2:c.1558_1559del
  • NP_000469.3:p.Leu520fs
  • NP_001120973.2:p.Leu465fs
  • NP_001170991.1:p.Leu443fs
  • NP_001356732.1:p.Leu520fs
  • NP_001356733.1:p.Leu520fs
  • NP_001356734.1:p.Leu520fs
  • NC_000001.10:g.21904124_21904125del
  • NM_000478.4:c.1558_1559delCT
Protein change:
L443fs
Links:
dbSNP: rs1553415164
NCBI 1000 Genomes Browser:
rs1553415164
Molecular consequence:
  • NM_000478.6:c.1558_1559del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127501.4:c.1393_1394del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177520.3:c.1327_1328del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369803.2:c.1558_1559del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369804.2:c.1558_1559del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369805.2:c.1558_1559del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Low alkaline phosphatase
Synonyms:
Decreased serum alkaline phosphatase
Identifiers:
MedGen: C1860130; Human Phenotype Ontology: HP:0003282

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611833Institute of Human Genetics,University of Wuerzburgno assertion criteria providedLikely pathogenicunknownclinical testing

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics,University of Wuerzburg, SCV000611833.1

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

Last Updated: Jun 14, 2021

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