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NM_000478.6(ALPL):c.1306T>C (p.Tyr436His) AND Infantile hypophosphatasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 15, 1992
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000014656.25

Allele description [Variation Report for NM_000478.6(ALPL):c.1306T>C (p.Tyr436His)]

NM_000478.6(ALPL):c.1306T>C (p.Tyr436His)

Gene:
ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_000478.6(ALPL):c.1306T>C (p.Tyr436His)
Other names:
Y419H
HGVS:
  • NC_000001.11:g.21576638T>C
  • NG_008940.1:g.72274T>C
  • NM_000478.6:c.1306T>CMANE SELECT
  • NM_001127501.4:c.1141T>C
  • NM_001177520.3:c.1075T>C
  • NM_001369803.2:c.1306T>C
  • NM_001369804.2:c.1306T>C
  • NM_001369805.2:c.1306T>C
  • NP_000469.3:p.Tyr436His
  • NP_001120973.2:p.Tyr381His
  • NP_001170991.1:p.Tyr359His
  • NP_001356732.1:p.Tyr436His
  • NP_001356733.1:p.Tyr436His
  • NP_001356734.1:p.Tyr436His
  • NC_000001.10:g.21903131T>C
  • P05186:p.Tyr436His
Protein change:
Y359H; TYR419HIS
Links:
UniProtKB: P05186#VAR_006169; OMIM: 171760.0007; dbSNP: rs121918006
NCBI 1000 Genomes Browser:
rs121918006
Molecular consequence:
  • NM_000478.6:c.1306T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.1141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.1075T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.1306T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.1306T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.1306T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034911OMIM
no assertion criteria provided
Pathogenic
(Oct 15, 1992) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP.

Proc Natl Acad Sci U S A. 1992 Oct 15;89(20):9924-8.

PubMed [citation]
PMID:
1409720
PMCID:
PMC50246

Details of each submission

From OMIM, SCV000034911.2

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

Description

For discussion of the tyr419-to-his (Y419H) mutation in the ALPL gene that was found in compound heterozygous state in a patient with infantile hypophosphatasia (241500) by Henthorn et al. (1992), see 171760.0006.

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

Last Updated: Jul 29, 2023