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NM_018972.4(GDAP1):c.100dup (p.Ser34fs) 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:
RCV003447270.1

Allele description [Variation Report for NM_018972.4(GDAP1):c.100dup (p.Ser34fs)]

NM_018972.4(GDAP1):c.100dup (p.Ser34fs)

Genes:
LOC130000622:ATAC-STARR-seq lymphoblastoid active region 27542 [Gene]
GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q21.11
Genomic location:
Preferred name:
NM_018972.4(GDAP1):c.100dup (p.Ser34fs)
HGVS:
  • NC_000008.11:g.74350561dup
  • NG_008787.3:g.34432dup
  • NM_001040875.4:c.-64+89dup
  • NM_001362929.2:c.-83dup
  • NM_001362930.2:c.100dup
  • NM_001362931.2:c.100dup
  • NM_001362932.2:c.-35dup
  • NM_018972.4:c.100dupMANE SELECT
  • NP_001349859.1:p.Ser34fs
  • NP_001349860.1:p.Ser34fs
  • NP_061845.2:p.Ser34fs
  • LRG_244:g.34432dup
  • NC_000008.10:g.75262796dup
  • NM_018972.2:c.100dupT
Protein change:
S34fs
Links:
dbSNP: rs1586794271
NCBI 1000 Genomes Browser:
rs1586794271
Molecular consequence:
  • NM_001362929.2:c.-83dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362932.2:c.-35dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362930.2:c.100dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362931.2:c.100dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018972.4:c.100dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001040875.4:c.-64+89dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004174578Inherited 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

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, et al.

Neurogenetics. 2015 Jan;16(1):33-42. doi: 10.1007/s10048-014-0422-0. Epub 2014 Sep 18.

PubMed [citation]
PMID:
25231362
PMCID:
PMC4917005

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174578.1

#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: Dec 17, 2023