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NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe) 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:
RCV000192179.10

Allele description [Variation Report for NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe)]

NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe)

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.1154C>T (p.Ser385Phe)
HGVS:
  • NC_000017.11:g.44910632G>A
  • NG_008401.1:g.9915C>T
  • NM_001131019.3:c.1154C>T
  • NM_001242376.3:c.1154C>T
  • NM_001363846.2:c.1154C>T
  • NM_002055.5:c.1154C>TMANE SELECT
  • NP_001124491.1:p.Ser385Phe
  • NP_001229305.1:p.Ser385Phe
  • NP_001350775.1:p.Ser385Phe
  • NP_002046.1:p.Ser385Phe
  • NC_000017.10:g.42988000G>A
  • NM_002055.4:c.1154C>T
  • P14136:p.Ser385Phe
Protein change:
S385F
Links:
UniProtKB: P14136#VAR_071568; dbSNP: rs797044590
NCBI 1000 Genomes Browser:
rs797044590
Molecular consequence:
  • NM_001131019.3:c.1154C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.1154C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.1154C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.1154C>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
SCV000223045GeneReviews
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 with mild dorsal brainstem atrophy and infantile spasms.

Torisu H, Yoshikawa Y, Yamaguchi-Takada Y, Yano T, Sanefuji M, Ishizaki Y, Sawaishi Y, Hara T.

Brain Dev. 2013 May;35(5):441-4. doi: 10.1016/j.braindev.2012.06.009. Epub 2012 Jul 20.

PubMed [citation]
PMID:
22818990

Details of each submission

From GeneReviews, SCV000223045.2

#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: Nov 3, 2024