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NM_006214.3(PHYH):c.823C>T (p.Arg275Trp)

Variation ID: Help
7580
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_006214.3(PHYH):c.823C>T (p.Arg275Trp)

Allele ID:
22619
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
  • Chr10: 13283695 (on Assembly GRCh38)
  • Chr10: 13325695 (on Assembly GRCh37)
Protein change:
R275W
HGVS:
  • NG_012862.1:g.21436C>T
  • NM_006214.3:c.823C>T
  • NP_006205.1:p.Arg275Trp
  • NC_000010.11:g.13283695G>A (GRCh38)
  • NC_000010.10:g.13325695G>A (GRCh37)
  • O14832:p.Arg275Trp
Links:
NCBI 1000 Genomes Browser:
rs104894178
Molecular consequence:
NM_006214.3:c.823C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00023 (A)
  • ExAC 0.00015 (A)

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
(Mar 15, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000322353.5
    Likely pathogenic
    (May 12, 2017)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000789813.1
    Pathogenic
    (May 1, 2000)
    no assertion criteria providedliterature only
    • Refsum disease, adult, 1[MedGen]
    germlineOMIMSCV000028223.1
    Likely pathogenic
    (Jan 1, 2015)
    no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000598731.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided1germline, unknownEuropeannot provided
    Counsylnot providednot providedunknownnot providednot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe R275W likely pathogenic va…Full description
    NIHR Bioresource Rare Diseases,University of Cambridgenot provided1unknownEuropeannot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 3, 2018