U.S. flag

An official website of the United States government

NM_005670.4(EPM2A):c.512G>A (p.Arg171His) AND Lafora disease

Germline classification:
not provided (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000003248.10

Allele description [Variation Report for NM_005670.4(EPM2A):c.512G>A (p.Arg171His)]

NM_005670.4(EPM2A):c.512G>A (p.Arg171His)

Gene:
EPM2A:EPM2A glucan phosphatase, laforin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q24.3
Genomic location:
Preferred name:
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
HGVS:
  • NC_000006.12:g.145635451C>T
  • NG_012832.2:g.105405G>A
  • NM_001018041.2:c.512G>A
  • NM_001360057.2:c.477-7758G>A
  • NM_001360064.2:c.98G>A
  • NM_001360071.2:c.98G>A
  • NM_001368129.2:c.50G>A
  • NM_001368130.1:c.512G>A
  • NM_001368131.1:c.98G>A
  • NM_001368132.1:c.50G>A
  • NM_005670.4:c.512G>AMANE SELECT
  • NP_001018051.1:p.Arg171His
  • NP_001346993.1:p.Arg33His
  • NP_001347000.1:p.Arg33His
  • NP_001355058.1:p.Arg17His
  • NP_001355059.1:p.Arg171His
  • NP_001355060.1:p.Arg33His
  • NP_001355061.1:p.Arg17His
  • NP_005661.1:p.Arg171His
  • NC_000006.11:g.145956587C>T
  • NG_012832.1:g.105405G>A
  • NM_005670.3:c.512G>A
  • O95278:p.Arg171His
Protein change:
R171H; ARG171HIS
Links:
UniProtKB: O95278#VAR_019474; OMIM: 607566.0005; dbSNP: rs137852916
NCBI 1000 Genomes Browser:
rs137852916
Molecular consequence:
  • NM_001360057.2:c.477-7758G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018041.2:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360064.2:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360071.2:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368129.2:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368130.1:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368131.1:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368132.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005670.4:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lafora disease
Synonyms:
Lafora body disorder; Myoclonic epilepsy of Lafora; Epilepsy progressive myoclonic 2
Identifiers:
MONDO: MONDO:0009697; MedGen: C0751783; Orphanet: 501; OMIM: PS254780

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
SCV002546559GeneReviews
no classification provided
not providedgermlineliterature only

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV002546559.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024