U.S. flag

An official website of the United States government

NM_022041.4(GAN):c.282+3A>C AND Giant axonal neuropathy 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Dec 22, 2020
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:
RCV000789129.2

Allele description [Variation Report for NM_022041.4(GAN):c.282+3A>C]

NM_022041.4(GAN):c.282+3A>C

Gene:
GAN:gigaxonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_022041.4(GAN):c.282+3A>C
HGVS:
  • NC_000016.10:g.81351700A>C
  • NG_009007.1:g.41735A>C
  • NM_001377486.1:c.-357-2705A>C
  • NM_022041.4:c.282+3A>CMANE SELECT
  • LRG_242t1:c.282+3A>C
  • LRG_242:g.41735A>C
  • NC_000016.9:g.81385305A>C
  • NM_022041.3:c.282+3A>C
Links:
dbSNP: rs1597400032
NCBI 1000 Genomes Browser:
rs1597400032
Molecular consequence:
  • NM_001377486.1:c.-357-2705A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022041.4:c.282+3A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Giant axonal neuropathy 1 (GAN1)
Synonyms:
GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0009749; MedGen: C1850386; Orphanet: 643; OMIM: 256850

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928480Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV004174539Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Dec 22, 2020) 		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

Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.

Leung CL, Pang Y, Shu C, Goryunov D, Liem RK.

BMC Genet. 2007 Mar 1;8:6.

PubMed [citation]
PMID:
17331252
PMCID:
PMC1810559

Details of each submission

From Inherited Neuropathy Consortium, SCV000928480.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174539.1

#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