NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) AND Alexander Disease

Clinical significance:Likely benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000263951.3

Allele description [Variation Report for NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)]

NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)

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.140C>T (p.Pro47Leu)
HGVS:
  • NC_000017.11:g.44915347G>A
  • NG_008401.1:g.5200C>T
  • NM_001131019.3:c.140C>T
  • NM_001242376.3:c.140C>T
  • NM_001363846.2:c.140C>T
  • NM_002055.5:c.140C>TMANE SELECT
  • NP_001124491.1:p.Pro47Leu
  • NP_001229305.1:p.Pro47Leu
  • NP_001350775.1:p.Pro47Leu
  • NP_002046.1:p.Pro47Leu
  • NC_000017.10:g.42992715G>A
  • NM_002055.3:c.140C>T
  • NM_002055.4:c.140C>T
  • P14136:p.Pro47Leu
Protein change:
P47L
Links:
UniProtKB: P14136#VAR_017464; dbSNP: rs57474185
NCBI 1000 Genomes Browser:
rs57474185
Molecular consequence:
  • NM_001131019.3:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.140C>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001140671Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001140671.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

Support Center