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NM_022041.4(GAN):c.371T>G (p.Phe124Cys) AND Giant axonal neuropathy 1

Germline classification:
Uncertain significance (2 submissions)
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:
RCV000789139.2

Allele description [Variation Report for NM_022041.4(GAN):c.371T>G (p.Phe124Cys)]

NM_022041.4(GAN):c.371T>G (p.Phe124Cys)

Gene:
GAN:gigaxonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_022041.4(GAN):c.371T>G (p.Phe124Cys)
HGVS:
  • NC_000016.10:g.81354493T>G
  • NG_009007.1:g.44528T>G
  • NM_001377486.1:c.-269T>G
  • NM_022041.4:c.371T>GMANE SELECT
  • NP_071324.1:p.Phe124Cys
  • NP_071324.1:p.Phe124Cys
  • LRG_242t1:c.371T>G
  • LRG_242:g.44528T>G
  • LRG_242p1:p.Phe124Cys
  • NC_000016.9:g.81388098T>G
  • NM_022041.3:c.371T>G
Protein change:
F124C
Links:
dbSNP: rs1597401545
NCBI 1000 Genomes Browser:
rs1597401545
Molecular consequence:
  • NM_001377486.1:c.-269T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022041.4:c.371T>G - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928490Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

SCV004174526Inherited 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

Proteasome inhibitors for malignancy-related Lambert-Eaton myasthenic syndrome.

Wang C, Chen S, Feng B, Guan Y.

Muscle Nerve. 2014 Mar;49(3):325-8. doi: 10.1002/mus.24122. Epub 2014 Jan 27.

PubMed [citation]
PMID:
24464710

Details of each submission

From Inherited Neuropathy Consortium, SCV000928490.1

#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, SCV004174526.1

#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