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NM_001540.4(HSPB1):c.379C>T (p.Arg127Trp)

Variation ID: Help
7479
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001540.4(HSPB1):c.379C>T (p.Arg127Trp)

Allele ID:
22518
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
  • Chr7: 76303816 (on Assembly GRCh38)
  • Chr7: 75933133 (on Assembly GRCh37)
Protein change:
R127W
HGVS:
  • NG_008995.1:g.6259C>T
  • NM_001540.4:c.379C>T
  • NP_001531.1:p.Arg127Trp
  • NC_000007.14:g.76303816C>T (GRCh38)
  • LRG_248t1:c.379C>T
  • NC_000007.13:g.75933133C>T (GRCh37)
  • NM_001540.3:c.379C>T
  • P04792:p.Arg127Trp
  • LRG_248p1:p.Arg127Trp
  • LRG_248:g.6259C>T
Links:
NCBI 1000 Genomes Browser:
rs29001571
Molecular consequence:
NM_001540.4:c.379C>T: 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
Pathogenic
(Apr 7, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000577216.3
    Pathogenic
    (Dec 23, 2016)
    criteria provided, single submitter
    clinical testinggermlineAthena Diagnostics IncSCV000613674.1
    Pathogenic
    (Aug 1, 2005)
    no assertion criteria providedliterature only
    • Distal hereditary motor neuronopathy type 2B[MedGen | OMIM]
    germlineOMIMSCV000028111.1
    Pathogenic
    (Aug 1, 2005)
    no assertion criteria providedliterature onlygermlineOMIMSCV000028112.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    Athena Diagnostics Incnot providednot providedgermlinenot providednot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe R127W pathogenic variant i…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 3, 2018