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NM_000478.5(ALPL):c.668G>A (p.Arg223Gln)

Variation ID: Help
381586
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Mar 24, 2016
Number of submission(s):
1
See supporting ClinVar records

Allele(s) Help

NM_000478.5(ALPL):c.668G>A (p.Arg223Gln)

Allele ID:
364747
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
  • Chr1: 21568123 (on Assembly GRCh38)
  • Chr1: 21894616 (on Assembly GRCh37)
Protein change:
R223Q
HGVS:
  • NG_008940.1:g.63759G>A
  • NM_000478.5:c.668G>A
  • NP_000469.3:p.Arg223Gln
  • NC_000001.11:g.21568123G>A (GRCh38)
  • NC_000001.10:g.21894616G>A (GRCh37)
  • NM_000478.4:c.668G>A
Links:
NCBI 1000 Genomes Browser:
rs199665722
Molecular consequence:
NM_000478.5:c.668G>A: missense variant [Sequence Ontology SO:0001583]

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
(Mar 24, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000521021.3
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe R223Q variant in the ALPL …Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 3, 2018