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NM_000478.5(ALPL):c.211C>T (p.Arg71Cys)

Variation ID: Help
13663
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Jan 15, 2018
Number of submission(s):
2
Condition(s):
Infantile hypophosphatasia[MedGen - Orphanet - OMIM - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_000478.5(ALPL):c.211C>T (p.Arg71Cys)

Allele ID:
28702
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1
Genomic location:
  • Chr1: 21561126 (on Assembly GRCh38)
  • Chr1: 21887619 (on Assembly GRCh37)
Protein change:
R54C, R71C
HGVS:
  • NG_008940.1:g.56762C>T
  • NM_000478.5:c.211C>T
  • NM_001177520.1:c.66+381C>T
  • NP_000469.3:p.Arg71Cys
  • NC_000001.11:g.21561126C>T (GRCh38)
  • NC_000001.10:g.21887619C>T (GRCh37)
  • NM_000478.4:c.211C>T
  • P05186:p.Arg71Cys
Links:
NCBI 1000 Genomes Browser:
rs121918001
Molecular consequence:
  • NM_000478.5:c.211C>T: missense variant SO:0001583
  • NM_001177520.1:c.66+381C>T: intron variant SO:0001627

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
Likely pathogenic
(Jan 15, 2018)
criteria provided, single submitter
clinical testingunknownCounsylSCV000797139.1
Pathogenic
(Oct 15, 1992)
no assertion criteria providedliterature onlygermlineOMIMSCV000034904.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, unknownnot providednot provided
Counsylnot providednot providedunknownnot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 23, 2018