NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) AND Charcot-Marie-Tooth disease

Clinical significance:Pathogenic (Last evaluated: Apr 30, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000192252.1

Allele description [Variation Report for NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)]

NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)

Gene:
HSPB8:heat shock protein family B (small) member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.23
Genomic location:
Preferred name:
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)
HGVS:
  • NC_000012.12:g.119187078A>G
  • NG_007953.2:g.13289A>G
  • NM_014365.2:c.421A>G
  • NP_055180.1:p.Lys141Glu
  • NP_055180.1:p.Lys141Glu
  • LRG_249t1:c.421A>G
  • LRG_249:g.13289A>G
  • LRG_249p1:p.Lys141Glu
  • NC_000012.11:g.119624883A>G
  • Q9UJY1:p.Lys141Glu
Protein change:
K141E; LYS141GLU
Links:
UniProtKB: Q9UJY1#VAR_018504; OMIM: 608014.0002; dbSNP: rs104894351
NCBI 1000 Genomes Browser:
rs104894351
Molecular consequence:
  • NM_014365.2:c.421A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000239900GeneReviewsno assertion criteria providedPathogenic
(Apr 30, 2015)
germlineliterature only

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000239900.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2019

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