NM_000478.5(ALPL):c.814C>T (p.Arg272Cys) AND Infantile hypophosphatasia

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2008)

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:
RCV000014679.21

Allele description

NM_000478.5(ALPL):c.814C>T (p.Arg272Cys)

Gene:
ALPL:alkaline phosphatase, liver/bone/kidney [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_000478.5(ALPL):c.814C>T (p.Arg272Cys)
HGVS:
  • NC_000001.11:g.21570326C>T
  • NG_008940.1:g.65962C>T
  • NM_000478.5:c.814C>T
  • NP_000469.3:p.Arg272Cys
  • NC_000001.10:g.21896819C>T
  • NM_000478.4:c.814C>T
Protein change:
R272C; ARG272CYS
Links:
OMIM: 171760.0023; dbSNP: rs121918020
NCBI 1000 Genomes Browser:
rs121918020
Allele Frequency:
0.00002(T)
Molecular consequence:
  • NM_000478.5:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Infantile hypophosphatasia (HOPS)
Synonyms:
PHOSPHOETHANOLAMINURIA
Identifiers:
MedGen: C0268412; Orphanet: 436; OMIM: 241500
Prevalence:
1-9 / 1 000 000 436

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034934OMIMno assertion criteria providedPathogenic
(Sep 1, 2008)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Stevenson DA, Carey JC, Coburn SP, Ericson KL, Byrne JL, Mumm S, Whyte MP.

J Clin Endocrinol Metab. 2008 Sep;93(9):3443-8. doi: 10.1210/jc.2008-0318. Epub 2008 Jun 17.

PubMed [citation]
PMID:
18559907
PMCID:
PMC2567856

Details of each submission

From OMIM, SCV000034934.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the arg272-to-cys (R272C) mutation in the ALPL gene that was found in compound heterozygous state in brothers, one with infantile hypophosphatasia (241500) and the other with childhood hypophosphatasia (241510) by Stevenson et al. (2008), see 171760.0022.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 5, 2017