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NM_002055.5(GFAP):c.239T>C (p.Phe80Ser) 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:
RCV000192113.10

Allele description [Variation Report for NM_002055.5(GFAP):c.239T>C (p.Phe80Ser)]

NM_002055.5(GFAP):c.239T>C (p.Phe80Ser)

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.239T>C (p.Phe80Ser)
HGVS:
  • NC_000017.11:g.44915248A>G
  • NG_008401.1:g.5299T>C
  • NM_001131019.3:c.239T>C
  • NM_001242376.3:c.239T>C
  • NM_001363846.2:c.239T>C
  • NM_002055.5:c.239T>CMANE SELECT
  • NP_001124491.1:p.Phe80Ser
  • NP_001229305.1:p.Phe80Ser
  • NP_001350775.1:p.Phe80Ser
  • NP_002046.1:p.Phe80Ser
  • NC_000017.10:g.42992616A>G
  • NM_002055.4:c.239T>C
Protein change:
F80S
Links:
dbSNP: rs797044572
NCBI 1000 Genomes Browser:
rs797044572
Molecular consequence:
  • NM_001131019.3:c.239T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.239T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.239T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.239T>C - 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
SCV000222972GeneReviews
no classification provided
not providedgermlineliterature 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

Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.

da Silva Pereira CC, Gattás GS, Lucato LT.

J Comput Assist Tomogr. 2013 Sep-Oct;37(5):698-700. doi: 10.1097/RCT.0b013e31829f5a04.

PubMed [citation]
PMID:
24045243

Details of each submission

From GeneReviews, SCV000222972.2

#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: Sep 29, 2024