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NM_001540.4(HSPB1):c.250G>C (p.Gly84Arg)

Variation ID: Help
220419
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 16, 2017
Number of submission(s):
1
Condition(s):
Charcot-Marie-Tooth disease type 2F[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001540.4(HSPB1):c.250G>C (p.Gly84Arg)

Allele ID:
221739
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
  • Chr7: 76302962 (on Assembly GRCh38)
  • Chr7: 75932279 (on Assembly GRCh37)
Protein change:
G84R
HGVS:
  • NG_008995.1:g.5405G>C
  • NM_001540.4:c.250G>C
  • NP_001531.1:p.Gly84Arg
  • NC_000007.14:g.76302962G>C (GRCh38)
  • LRG_248t1:c.250G>C
  • NC_000007.13:g.75932279G>C (GRCh37)
  • NM_001540.3:c.250G>C
  • LRG_248p1:p.Gly84Arg
  • LRG_248:g.5405G>C
Links:
NCBI 1000 Genomes Browser:
rs770272088
Molecular consequence:
NM_001540.4:c.250G>C: 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
(Nov 16, 2017)
criteria provided, single submitter
clinical testinggermlineInvitaeSCV000260941.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Invitaenot providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jul 21, 2018