Click here to see the new Variation Report design!

NM_001540.4(HSPB1):c.418C>G (p.Arg140Gly)

Variation ID: Help
7484
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 23, 2018
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_001540.4(HSPB1):c.418C>G (p.Arg140Gly)

Allele ID:
22523
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
  • Chr7: 76303855 (on Assembly GRCh38)
  • Chr7: 75933172 (on Assembly GRCh37)
Protein change:
R140G
HGVS:
  • NG_008995.1:g.6298C>G
  • NM_001540.4:c.418C>G
  • NP_001531.1:p.Arg140Gly
  • NC_000007.14:g.76303855C>G (GRCh38)
  • LRG_248t1:c.418C>G
  • NC_000007.13:g.75933172C>G (GRCh37)
  • NM_001540.3:c.418C>G
  • LRG_248p1:p.Arg140Gly
  • LRG_248:g.6298C>G
Links:
NCBI 1000 Genomes Browser:
rs121909112
Molecular consequence:
NM_001540.4:c.418C>G: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Feb 23, 2018)
criteria provided, single submitter
clinical testinggermlineInvitaeSCV000816282.1
Pathogenic
(Nov 18, 2008)
no assertion criteria providedliterature only
  • Distal hereditary motor neuronopathy type 2B[MedGen | OMIM]
germlineOMIMSCV000028117.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
Invitaenot providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 13, 2018