NM_000304.4(PMP22):c.36C>A (p.His12Gln) AND Dejerine-Sottas disease

Clinical significance:Uncertain significance

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:
RCV000790177.1

Allele description [Variation Report for NM_000304.4(PMP22):c.36C>A (p.His12Gln)]

NM_000304.4(PMP22):c.36C>A (p.His12Gln)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
HGVS:
  • NC_000017.11:g.15260692G>T
  • NG_007949.1:g.9636C>A
  • NM_000304.4:c.36C>AMANE SELECT
  • NM_001281455.2:c.36C>A
  • NM_001281456.2:c.36C>A
  • NM_001330143.2:c.36C>A
  • NM_153321.3:c.36C>A
  • NM_153322.3:c.36C>A
  • NP_000295.1:p.His12Gln
  • NP_001268384.1:p.His12Gln
  • NP_001268385.1:p.His12Gln
  • NP_001317072.1:p.His12Gln
  • NP_696996.1:p.His12Gln
  • NP_696997.1:p.His12Gln
  • LRG_263:g.9636C>A
  • NC_000017.10:g.15164009G>T
  • NM_000304.3:c.36C>A
  • Q01453:p.His12Gln
Protein change:
H12Q; HIS12GLN
Links:
UniProtKB: Q01453#VAR_006359; OMIM: 601097.0008; dbSNP: rs104894622
NCBI 1000 Genomes Browser:
rs104894622
Molecular consequence:
  • NM_000304.4:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dejerine-Sottas disease
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 3; HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929568Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

Valentijn LJ, Ouvrier RA, van den Bosch NH, Bolhuis PA, Baas F, Nicholson GA.

Hum Mutat. 1995;5(1):76-80.

PubMed [citation]
PMID:
7728152

Details of each submission

From Inherited Neuropathy Consortium, SCV000929568.1

#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: Nov 27, 2021

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