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NM_000478.6(ALPL):c.407G>C (p.Arg136Pro) AND Infantile hypophosphatasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 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:
RCV000666790.1

Allele description [Variation Report for NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)]

NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)

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.407G>C (p.Arg136Pro)
HGVS:
  • NC_000001.11:g.21563219G>C
  • NG_008940.1:g.58855G>C
  • NM_000478.6:c.407G>CMANE SELECT
  • NM_001127501.4:c.242G>C
  • NM_001177520.3:c.176G>C
  • NM_001369803.2:c.407G>C
  • NM_001369804.2:c.407G>C
  • NM_001369805.2:c.407G>C
  • NP_000469.3:p.Arg136Pro
  • NP_001120973.2:p.Arg81Pro
  • NP_001170991.1:p.Arg59Pro
  • NP_001356732.1:p.Arg136Pro
  • NP_001356733.1:p.Arg136Pro
  • NP_001356734.1:p.Arg136Pro
  • NC_000001.10:g.21889712G>C
  • NM_000478.4:c.407G>C
Protein change:
R136P
Links:
dbSNP: rs121918011
NCBI 1000 Genomes Browser:
rs121918011
Molecular consequence:
  • NM_000478.6:c.407G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.242G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.176G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.407G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.407G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.407G>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
SCV000791146Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 4, 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

A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J.

Orphanet J Rare Dis. 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. Review.

PubMed [citation]
PMID:
22913777
PMCID:
PMC3492206

Details of each submission

From Counsyl, SCV000791146.1

#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: Sep 29, 2024