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NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln) 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:
RCV000192169.10

Allele description [Variation Report for NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln)]

NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln)

Genes:
LOC130060994:ATAC-STARR-seq lymphoblastoid active region 12266 [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.1111G>C (p.Glu371Gln)
HGVS:
  • NC_000017.11:g.44911252C>G
  • NG_008401.1:g.9295G>C
  • NM_001131019.3:c.1111G>C
  • NM_001242376.3:c.1111G>C
  • NM_001363846.2:c.1111G>C
  • NM_002055.5:c.1111G>CMANE SELECT
  • NP_001124491.1:p.Glu371Gln
  • NP_001229305.1:p.Glu371Gln
  • NP_001350775.1:p.Glu371Gln
  • NP_002046.1:p.Glu371Gln
  • NC_000017.10:g.42988620C>G
  • NM_002055.4:c.1111G>C
  • P14136:p.Glu371Gln
Protein change:
E371Q
Links:
UniProtKB: P14136#VAR_071560; dbSNP: rs267607526
NCBI 1000 Genomes Browser:
rs267607526
Molecular consequence:
  • NM_001131019.3:c.1111G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.1111G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.1111G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.1111G>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
SCV000223035GeneReviews
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

GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, et al.

Neurology. 2011 Sep 27;77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14.

PubMed [citation]
PMID:
21917775
PMCID:
PMC3179649

Details of each submission

From GeneReviews, SCV000223035.2

#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: Oct 13, 2024