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NM_002055.5(GFAP):c.628G>A (p.Glu210Lys) 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:
RCV000192130.11

Allele description [Variation Report for NM_002055.5(GFAP):c.628G>A (p.Glu210Lys)]

NM_002055.5(GFAP):c.628G>A (p.Glu210Lys)

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.628G>A (p.Glu210Lys)
HGVS:
  • NC_000017.11:g.44913421C>T
  • NG_008401.1:g.7126G>A
  • NM_001131019.3:c.628G>A
  • NM_001242376.3:c.628G>A
  • NM_001363846.2:c.628G>A
  • NM_002055.5:c.628G>AMANE SELECT
  • NP_001124491.1:p.Glu210Lys
  • NP_001229305.1:p.Glu210Lys
  • NP_001350775.1:p.Glu210Lys
  • NP_002046.1:p.Glu210Lys
  • NC_000017.10:g.42990789C>T
  • NM_002055.4:c.628G>A
  • P14136:p.Glu210Lys
Protein change:
E210K
Links:
UniProtKB: P14136#VAR_071542; dbSNP: rs57661783
NCBI 1000 Genomes Browser:
rs57661783
Molecular consequence:
  • NM_001131019.3:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.628G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000222991GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.

Kyllerman M, Rosengren L, Wiklund LM, Holmberg E.

Neuropediatrics. 2005 Oct;36(5):319-23.

PubMed [citation]
PMID:
16217707

Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.

van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C, Barkhof F, Salomons GS.

Neurology. 2006 Feb 28;66(4):494-8.

PubMed [citation]
PMID:
16505300
See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000222991.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024