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NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) AND Charcot-Marie-Tooth disease type 1F

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000034139.4

Allele description [Variation Report for NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)]

NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)

Gene:
NEFL:neurofilament light chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.2
Genomic location:
Preferred name:
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)
HGVS:
  • NC_000008.11:g.24956451G>C
  • NG_008492.1:g.5167C>G
  • NM_006158.5:c.65C>GMANE SELECT
  • NP_006149.2:p.Pro22Arg
  • LRG_259:g.5167C>G
  • NC_000008.10:g.24813965G>C
  • NM_006158.3:c.65C>G
Protein change:
P22R
Links:
dbSNP: rs267607538
NCBI 1000 Genomes Browser:
rs267607538
Molecular consequence:
  • NM_006158.5:c.65C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 1F
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F; CMT 1F; Charcot-Marie-Tooth disease, demyelinating, type 1f
Identifiers:
MONDO: MONDO:0011902; MedGen: C1843164; Orphanet: 101085; OMIM: 607734

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000058070GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Bird TD.

1998 Aug 31 [updated 2015 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301384

Details of each submission

From GeneReviews, SCV000058070.3

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

Last Updated: Oct 8, 2022