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NM_018972.4(GDAP1):c.439del (p.Thr147fs) AND Charcot-Marie-Tooth disease recessive intermediate A

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:
RCV003447181.1

Allele description [Variation Report for NM_018972.4(GDAP1):c.439del (p.Thr147fs)]

NM_018972.4(GDAP1):c.439del (p.Thr147fs)

Gene:
GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q21.11
Genomic location:
Preferred name:
NM_018972.4(GDAP1):c.439del (p.Thr147fs)
HGVS:
  • NC_000008.11:g.74360265del
  • NG_008787.3:g.44136del
  • NM_001040875.4:c.235del
  • NM_001362929.2:c.112del
  • NM_001362930.2:c.311-1619del
  • NM_001362931.2:c.439del
  • NM_001362932.2:c.112del
  • NM_018972.4:c.439delMANE SELECT
  • NP_001035808.1:p.Thr79fs
  • NP_001349858.1:p.Thr38fs
  • NP_001349860.1:p.Thr147fs
  • NP_001349861.1:p.Thr38fs
  • NP_061845.2:p.Thr147fs
  • LRG_244t1:c.439del
  • LRG_244:g.44136del
  • NC_000008.10:g.75272500del
  • NM_018972.2:c.439delA
Protein change:
T147fs
Links:
dbSNP: rs1586803279
NCBI 1000 Genomes Browser:
rs1586803279
Molecular consequence:
  • NM_001040875.4:c.235del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362929.2:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362931.2:c.439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362932.2:c.112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018972.4:c.439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362930.2:c.311-1619del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth disease recessive intermediate A (CMTRIA)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A
Identifiers:
MONDO: MONDO:0012014; MedGen: C1842197; Orphanet: 217055; OMIM: 608340

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174572Inherited 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

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, Christodoulou K.

Can J Neurol Sci. 2006 Aug;33(3):311-6.

PubMed [citation]
PMID:
17001820

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174572.1

#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