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NM_001540.4(HSPB1):c.545C>T (p.Pro182Leu)

Variation ID: Help
7481
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 15, 2006
Number of submission(s):
1
Condition(s):
Distal hereditary motor neuronopathy type 2B[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001540.4(HSPB1):c.545C>T (p.Pro182Leu)

Allele ID:
22520
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
  • Chr7: 76304100 (on Assembly GRCh38)
  • Chr7: 75933417 (on Assembly GRCh37)
Protein change:
P182L
HGVS:
  • NG_008995.1:g.6543C>T
  • NM_001540.4:c.545C>T
  • NP_001531.1:p.Pro182Leu
  • NC_000007.14:g.76304100C>T (GRCh38)
  • LRG_248t1:c.545C>T
  • NC_000007.13:g.75933417C>T (GRCh37)
  • NM_001540.3:c.545C>T
  • P04792:p.Pro182Leu
  • LRG_248p1:p.Pro182Leu
  • LRG_248:g.6543C>T
Links:
NCBI 1000 Genomes Browser:
rs28937569
Molecular consequence:
NM_001540.4:c.545C>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
(Jan 15, 2006)
no assertion criteria providedliterature only
  • Distal hereditary motor neuronopathy type 2B[MedGen | OMIM]
germlineOMIMSCV000028114.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jul 21, 2018