NM_000166.6(GJB1):c.542T>C (p.Val181Ala) 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:: RCV000789797.1

Allele description [Variation Report for NM_000166.6(GJB1):c.542T>C (p.Val181Ala)]

NM_000166.6(GJB1):c.542T>C (p.Val181Ala)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.542T>C (p.Val181Ala)

HGVS:

NC_000023.11:g.71224249T>C
NG_008357.1:g.14038T>C
NM_000166.6:c.542T>CMANE SELECT
NM_001097642.3:c.542T>C
NP_000157.1:p.Val181Ala
NP_001091111.1:p.Val181Ala
LRG_245t2:c.542T>C
LRG_245:g.14038T>C
LRG_245p2:p.Val181Ala
NC_000023.10:g.70444099T>C
NM_000166.5:c.542T>C

Protein change:

V181A

Links:

dbSNP: rs876661252

NCBI 1000 Genomes Browser:

rs876661252

Molecular consequence:

NM_000166.6:c.542T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001097642.3:c.542T>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000929181	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	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

SCV000929181

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

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	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.

Abrams CK, Freidin M, Bukauskas F, Dobrenis K, Bargiello TA, Verselis VK, Bennett MV, Chen L, Sahenk Z.

J Neurosci. 2003 Nov 19;23(33):10548-58.

PubMed [citation]

PMID:: 14627639
PMCID:: PMC4513672

Details of each submission

From Inherited Neuropathy Consortium, SCV000929181.1

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

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

Last Updated: Feb 20, 2024

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