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NM_018972.4(GDAP1):c.311-1G>A AND Charcot-Marie-Tooth disease axonal type 2K

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
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:
RCV003447230.1

Allele description [Variation Report for NM_018972.4(GDAP1):c.311-1G>A]

NM_018972.4(GDAP1):c.311-1G>A

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.311-1G>A
HGVS:
  • NC_000008.11:g.74360136G>A
  • NG_008787.3:g.44007G>A
  • NM_001040875.4:c.107-1G>A
  • NM_001362929.2:c.-17-1G>A
  • NM_001362930.2:c.311-1748G>A
  • NM_001362931.2:c.311-1G>A
  • NM_001362932.2:c.-17-1G>A
  • NM_018972.4:c.311-1G>AMANE SELECT
  • LRG_244t1:c.311-1G>A
  • LRG_244:g.44007G>A
  • NC_000008.10:g.75272371G>A
  • NM_018972.2:c.311-1G>A
Links:
dbSNP: rs1370011538
NCBI 1000 Genomes Browser:
rs1370011538
Molecular consequence:
  • NM_001362930.2:c.311-1748G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040875.4:c.107-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001362929.2:c.-17-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001362931.2:c.311-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001362932.2:c.-17-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_018972.4:c.311-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Charcot-Marie-Tooth disease axonal type 2K
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
Identifiers:
MONDO: MONDO:0011916; MedGen: C1842983; Orphanet: 99944; OMIM: 607831

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174646Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature 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

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F.

Brain. 2008 Nov;131(Pt 11):3051-61. doi: 10.1093/brain/awn228. Epub 2008 Sep 23.

PubMed [citation]
PMID:
18812441

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174646.1

#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: Nov 3, 2024