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NM_000478.5(ALPL):c.212G>C (p.Arg71Pro)

Variation ID: Help
13665
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 15, 1992
Number of submission(s):
1
Condition(s):
Infantile hypophosphatasia[MedGen - Orphanet - OMIM - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_000478.5(ALPL):c.212G>C (p.Arg71Pro)

Allele ID:
28704
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1
Genomic location:
  • Chr1: 21561127 (on Assembly GRCh38)
  • Chr1: 21887620 (on Assembly GRCh37)
Protein change:
R54P, R71P
HGVS:
  • NG_008940.1:g.56763G>C
  • NM_000478.5:c.212G>C
  • NM_001177520.1:c.66+382G>C
  • NP_000469.3:p.Arg71Pro
  • NC_000001.11:g.21561127G>C (GRCh38)
  • NC_000001.10:g.21887620G>C (GRCh37)
  • NM_000478.4:c.212G>C
  • P05186:p.Arg71Pro
Links:
NCBI 1000 Genomes Browser:
rs121918003
Molecular consequence:
  • NM_000478.5:c.212G>C: missense variant SO:0001583
  • NM_001177520.1:c.66+382G>C: intron variant SO:0001627
Allele frequency:
ExAC 0.00002 (C)

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Oct 15, 1992)
no assertion criteria providedliterature onlygermlineOMIMSCV000034908.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 23, 2018