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NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) AND Alexander disease

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000192112.10

Allele description [Variation Report for NM_002055.5(GFAP):c.236G>T (p.Arg79Leu)]

NM_002055.5(GFAP):c.236G>T (p.Arg79Leu)

Gene:
GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu)
HGVS:
  • NC_000017.11:g.44915251C>A
  • NG_008401.1:g.5296G>T
  • NM_001131019.3:c.236G>T
  • NM_001242376.3:c.236G>T
  • NM_001363846.2:c.236G>T
  • NM_002055.5:c.236G>TMANE SELECT
  • NP_001124491.1:p.Arg79Leu
  • NP_001229305.1:p.Arg79Leu
  • NP_001350775.1:p.Arg79Leu
  • NP_002046.1:p.Arg79Leu
  • NC_000017.10:g.42992619C>A
  • NM_002055.4:c.236G>T
  • P14136:p.Arg79Leu
Protein change:
R79L
Links:
UniProtKB: P14136#VAR_071531; dbSNP: rs59285727
NCBI 1000 Genomes Browser:
rs59285727
Molecular consequence:
  • NM_001131019.3:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.236G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alexander disease (ALXDRD)
Synonyms:
Alexanders leukodystrophy; Megalencephaly in infancy accompanied by progressive spasticity and dementia; Alexander's disease
Identifiers:
MONDO: MONDO:0008752; MedGen: C0270726; Orphanet: 58; OMIM: 203450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222971GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Yoshida T, Sasaki M, Yoshida M, Namekawa M, Okamoto Y, Tsujino S, Sasayama H, Mizuta I, Nakagawa M; Alexander Disease Study Group in Japan..

J Neurol. 2011 Nov;258(11):1998-2008. doi: 10.1007/s00415-011-6056-3. Epub 2011 May 1.

PubMed [citation]
PMID:
21533827

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.

Shiroma N, Kanazawa N, Kato Z, Shimozawa N, Imamura A, Ito M, Ohtani K, Oka A, Wakabayashi K, Iai M, Sugai K, Sasaki M, Kaga M, Ohta T, Tsujino S.

Brain Dev. 2003 Mar;25(2):116-21.

PubMed [citation]
PMID:
12581808

Details of each submission

From GeneReviews, SCV000222971.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024