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NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000192250.11

Allele description [Variation Report for NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)]

NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)

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_014365.3(HSPB8):c.423G>T (p.Lys141Asn)
Other names:
HSPB8, 423G-T, LYS141ASN; K141N
HGVS:
  • NC_000012.12:g.119187080G>T
  • NG_007953.2:g.13291G>T
  • NM_014365.3:c.423G>TMANE SELECT
  • NP_055180.1:p.Lys141Asn
  • LRG_249t1:c.423G>T
  • LRG_249:g.13291G>T
  • LRG_249p1:p.Lys141Asn
  • NC_000012.11:g.119624885G>T
  • NM_014365.2:c.423G>T
  • Q9UJY1:p.Lys141Asn
Protein change:
LYS141ASN
Links:
UniProtKB: Q9UJY1#VAR_018505; OMIM: 608014.0003; dbSNP: rs104894345
NCBI 1000 Genomes Browser:
rs104894345
Molecular consequence:
  • NM_014365.3:c.423G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929353Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.

Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP.

Hum Genet. 2005 Feb;116(3):222-4. Epub 2004 Nov 23.

PubMed [citation]
PMID:
15565283

Details of each submission

From Inherited Neuropathy Consortium, SCV000929353.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024