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NM_000478.6(ALPL):c.485G>T (p.Gly162Val) AND Infantile hypophosphatasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 2017
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:
RCV000670940.1

Allele description [Variation Report for NM_000478.6(ALPL):c.485G>T (p.Gly162Val)]

NM_000478.6(ALPL):c.485G>T (p.Gly162Val)

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.485G>T (p.Gly162Val)
Other names:
G145V
HGVS:
  • NC_000001.11:g.21564053G>T
  • NG_008940.1:g.59689G>T
  • NM_000478.6:c.485G>TMANE SELECT
  • NM_001127501.4:c.320G>T
  • NM_001177520.3:c.254G>T
  • NM_001369803.2:c.485G>T
  • NM_001369804.2:c.485G>T
  • NM_001369805.2:c.485G>T
  • NP_000469.3:p.Gly162Val
  • NP_001120973.2:p.Gly107Val
  • NP_001170991.1:p.Gly85Val
  • NP_001356732.1:p.Gly162Val
  • NP_001356733.1:p.Gly162Val
  • NP_001356734.1:p.Gly162Val
  • NC_000001.10:g.21890546G>T
  • NM_000478.4:c.485G>T
  • NM_000478.5:c.485G>T
  • P05186:p.Gly162Val
Protein change:
G107V; GLY145VAL
Links:
UniProtKB: P05186#VAR_006153; OMIM: 171760.0014; dbSNP: rs121918012
NCBI 1000 Genomes Browser:
rs121918012
Molecular consequence:
  • NM_000478.6:c.485G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.320G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.254G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.485G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.485G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.485G>T - 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
SCV000795862Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Nov 21, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Correlations of genotype and phenotype in hypophosphatasia.

Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E.

Hum Mol Genet. 1999 Jun;8(6):1039-46.

PubMed [citation]
PMID:
10332035

Details of each submission

From Counsyl, SCV000795862.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024