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NM_000478.6(ALPL):c.318G>C (p.Gln106His) AND Infantile hypophosphatasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 13, 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:
RCV000669326.1

Allele description [Variation Report for NM_000478.6(ALPL):c.318G>C (p.Gln106His)]

NM_000478.6(ALPL):c.318G>C (p.Gln106His)

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.318G>C (p.Gln106His)
Other names:
p.Gln106His
HGVS:
  • NC_000001.11:g.21563130G>C
  • NG_008940.1:g.58766G>C
  • NM_000478.6:c.318G>CMANE SELECT
  • NM_001127501.4:c.153G>C
  • NM_001177520.3:c.87G>C
  • NM_001369803.2:c.318G>C
  • NM_001369804.2:c.318G>C
  • NM_001369805.2:c.318G>C
  • NP_000469.3:p.Gln106His
  • NP_001120973.2:p.Gln51His
  • NP_001170991.1:p.Gln29His
  • NP_001356732.1:p.Gln106His
  • NP_001356733.1:p.Gln106His
  • NP_001356734.1:p.Gln106His
  • NC_000001.10:g.21889623G>C
  • NM_000478.4:c.318G>C
Protein change:
Q106H
Links:
dbSNP: rs1553412268
NCBI 1000 Genomes Browser:
rs1553412268
Molecular consequence:
  • NM_000478.6:c.318G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.153G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.87G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.318G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.318G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.318G>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000794070Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Sep 13, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.

Balasubramaniam S, Bowling F, Carpenter K, Earl J, Chaitow J, Pitt J, Mornet E, Sillence D, Ellaway C.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S25-33. doi: 10.1007/s10545-009-9012-y. Epub 2010 Jan 5.

PubMed [citation]
PMID:
20049532

Details of each submission

From Counsyl, SCV000794070.1

#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: Jun 17, 2024