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NM_000478.6(ALPL):c.522del (p.Ser175fs) AND Infantile hypophosphatasia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2016
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:
RCV000409728.2

Allele description [Variation Report for NM_000478.6(ALPL):c.522del (p.Ser175fs)]

NM_000478.6(ALPL):c.522del (p.Ser175fs)

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.522del (p.Ser175fs)
HGVS:
  • NC_000001.11:g.21564090del
  • NG_008940.1:g.59726del
  • NM_000478.6:c.522delMANE SELECT
  • NM_001127501.4:c.357del
  • NM_001177520.3:c.291del
  • NM_001369803.2:c.522del
  • NM_001369804.2:c.522del
  • NM_001369805.2:c.522del
  • NP_000469.3:p.Ser175fs
  • NP_001120973.2:p.Ser120fs
  • NP_001170991.1:p.Ser98fs
  • NP_001356732.1:p.Ser175fs
  • NP_001356733.1:p.Ser175fs
  • NP_001356734.1:p.Ser175fs
  • NC_000001.10:g.21890579del
  • NC_000001.10:g.21890583del
  • NM_000478.4:c.522del
  • NM_000478.4:c.522delC
  • NM_000478.5:c.522del
  • NM_000478.5:c.522delC
Protein change:
S120fs
Links:
dbSNP: rs750174638
NCBI 1000 Genomes Browser:
rs750174638
Molecular consequence:
  • NM_000478.6:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127501.4:c.357del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177520.3:c.291del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369803.2:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369804.2:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369805.2:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Infantile hypophosphatasia
Identifiers:
MedGen: C0268412; Orphanet: 436; OMIM: 241500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486536Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))
Likely pathogenic
(Jun 21, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486536.2

#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: Sep 29, 2024