NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) AND Hypophosphatasia, perinatal lethal

Clinical significance:Pathogenic (Last evaluated: Oct 15, 2001)

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:
RCV000169778.2

Allele description [Variation Report for NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)]

NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)

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.1250A>G (p.Asn417Ser)
Other names:
N400S
HGVS:
  • NC_000001.11:g.21576582A>G
  • NG_008940.1:g.72218A>G
  • NM_000478.6:c.1250A>GMANE SELECT
  • NM_001127501.4:c.1085A>G
  • NM_001177520.3:c.1019A>G
  • NM_001369803.2:c.1250A>G
  • NM_001369804.2:c.1250A>G
  • NM_001369805.2:c.1250A>G
  • NP_000469.3:p.Asn417Ser
  • NP_001120973.2:p.Asn362Ser
  • NP_001170991.1:p.Asn340Ser
  • NP_001356732.1:p.Asn417Ser
  • NP_001356733.1:p.Asn417Ser
  • NP_001356734.1:p.Asn417Ser
  • NC_000001.10:g.21903075A>G
  • NM_000478.4:c.1250A>G
  • NM_000478.5:c.1250A>G
  • P05186:p.Asn417Ser
Protein change:
N340S; ASN400SER
Links:
UniProtKB: P05186#VAR_025937; OMIM: 171760.0017; dbSNP: rs121918014
NCBI 1000 Genomes Browser:
rs121918014
Molecular consequence:
  • NM_000478.6:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.1019A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypophosphatasia, perinatal lethal (HPPN)
Identifiers:
MONDO: MONDO:0016605; MedGen: C2673477

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034927OMIMno assertion criteria providedPathogenic
(Oct 15, 2001)
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

Details of each submission

From OMIM, SCV000034927.3

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

Description

For discussion of the asn400-to-ser (N400S) mutation in the ALPL gene that was found in compound heterozygous state in a fetus with peinatal lethal hypophosphatasia (see 241500) by Sergi et al. (2001), see 171760.0016.

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

Last Updated: Aug 17, 2021

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