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NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) 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:
RCV000790184.3

Allele description [Variation Report for NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)]

NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)

Gene:
REEP1:receptor accessory protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)
Other names:
*175W; *202W; *209W
HGVS:
  • NC_000002.12:g.86217101T>C
  • NG_013037.1:g.125983A>G
  • NM_001164730.2:c.626A>G
  • NM_001164731.2:c.524A>G
  • NM_001164732.2:c.370A>G
  • NM_001371279.1:c.793A>GMANE SELECT
  • NM_001371280.1:c.427A>G
  • NM_022912.3:c.605A>G
  • NP_001158202.1:p.Ter209Trp
  • NP_001158203.1:p.Ter175Trp
  • NP_001158204.1:p.Arg124Gly
  • NP_001358208.1:p.Arg265Gly
  • NP_001358209.1:p.Arg143Gly
  • NP_075063.1:p.Ter202Trp
  • NP_075063.1:p.Ter202Trp
  • LRG_713t2:c.605A>G
  • LRG_713:g.125983A>G
  • LRG_713p2:p.Ter202Trp
  • NC_000002.11:g.86444224T>C
  • NM_001164731.1:c.524A>G
  • NM_022912.2:c.605A>G
Protein change:
R124G
Links:
dbSNP: rs587781248
NCBI 1000 Genomes Browser:
rs587781248
Molecular consequence:
  • NM_001164732.2:c.370A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371279.1:c.793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371280.1:c.427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164730.2:c.626A>G - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001164731.2:c.524A>G - stop lost - [Sequence Ontology: SO:0001578]
  • NM_022912.3:c.605A>G - stop lost - [Sequence Ontology: SO:0001578]

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
SCV000929575Inherited 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

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB.

Biomed Res Int. 2014;2014:210401. doi: 10.1155/2014/210401. Epub 2014 Jun 16. Erratum in: Biomed Res Int. 2015;2015:314651. doi: 10.1155/2015/314651.

PubMed [citation]
PMID:
25025039
PMCID:
PMC4082881

Details of each submission

From Inherited Neuropathy Consortium, SCV000929575.1

#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: Aug 26, 2023