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NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) 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:
RCV000789148.2

Allele description [Variation Report for NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)]

NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)

Gene:
GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.11
Genomic location:
Preferred name:
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)
HGVS:
  • NC_000008.11:g.74364107C>G
  • NG_008787.3:g.47978C>G
  • NM_001040875.4:c.613C>G
  • NM_001362929.2:c.490C>G
  • NM_001362930.2:c.643C>G
  • NM_001362931.2:c.694+1054C>G
  • NM_001362932.2:c.490C>G
  • NM_018972.4:c.817C>GMANE SELECT
  • NP_001035808.1:p.Arg205Gly
  • NP_001349858.1:p.Arg164Gly
  • NP_001349859.1:p.Arg215Gly
  • NP_001349861.1:p.Arg164Gly
  • NP_061845.2:p.Arg273Gly
  • LRG_244t1:c.817C>G
  • LRG_244:g.47978C>G
  • NC_000008.10:g.75276342C>G
  • NM_018972.2:c.817C>G
Protein change:
R164G
Links:
dbSNP: rs150989205
NCBI 1000 Genomes Browser:
rs150989205
Molecular consequence:
  • NM_001362931.2:c.694+1054C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040875.4:c.613C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362929.2:c.490C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362930.2:c.643C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362932.2:c.490C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018972.4:c.817C>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928500Inherited 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

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.

Kabzińska D, Strugalska-Cynowska H, Kostera-Pruszczyk A, Ryniewicz B, Posmyk R, Midro A, Seeman P, Báranková L, Zimoń M, Baets J, Timmerman V, Guergueltcheva V, Tournev I, Sarafov S, De Jonghe P, Jordanova A, Hausmanowa-Petrusewicz I, Kochański A.

Neurogenetics. 2010 Jul;11(3):357-66. doi: 10.1007/s10048-010-0237-6. Epub 2010 Mar 16.

PubMed [citation]
PMID:
20232219

Details of each submission

From Inherited Neuropathy Consortium, SCV000928500.1

#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: Oct 20, 2024