NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) AND Charcot-Marie-Tooth disease type 1B

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1995
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:: RCV000015240.27

Allele description [Variation Report for NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)]

NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)

Gene:

MPZ:myelin protein zero [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)

HGVS:

NC_000001.11:g.161307304G>A
NG_008055.1:g.7669C>T
NM_000530.8:c.188C>TMANE SELECT
NM_001315491.2:c.188C>T
NP_000521.2:p.Ser63Phe
NP_001302420.1:p.Ser63Phe
LRG_256t1:c.188C>T
LRG_256:g.7669C>T
LRG_256p1:p.Ser63Phe
NC_000001.10:g.161277094G>A
NM_000530.6:c.188C>T
P25189:p.Ser63Phe

Protein change:

S63F; SER63PHE

Links:

UniProtKB: P25189#VAR_004509; OMIM: 159440.0012; dbSNP: rs121913585

NCBI 1000 Genomes Browser:

rs121913585

Molecular consequence:

NM_000530.8:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001315491.2:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 1B
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007307; MedGen: C0270912; Orphanet: 101082; OMIM: 118200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035499	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035499

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1995)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.

Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vandenberghe A.

Clin Genet. 1995 Dec;48(6):281-3.

PubMed [citation]

PMID:: 8835320

Details of each submission

From OMIM, SCV000035499.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 54-year-old mother and her 22-year-old daughter, Blanquet-Grossard et al. (1995) found that type 1B Charcot-Marie-Tooth disease (CMT1B; 118200) was associated with a ser63-to-phe mutation. This was the third mutation to be described at this codon; a ser63-to-del mutation (159440.0003) led to CMT1B.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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