NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu) AND Familial infantile myasthenia

Clinical significance: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:
RCV000988357.1

Allele description [Variation Report for NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)]

NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)

Genes:
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)
HGVS:
  • NC_000010.11:g.49612299C>A
  • NG_011797.1:g.8205C>A
  • NG_053144.1:g.6999C>A
  • NM_003055.3:c.1559C>AMANE SELECT
  • NM_020984.3:c.-69+3100C>A
  • NP_003046.2:p.Ala520Glu
  • NC_000010.10:g.50820345C>A
  • NM_003055.2:c.1559C>A
Protein change:
A520E
Links:
dbSNP: rs8187730
NCBI 1000 Genomes Browser:
rs8187730
Molecular consequence:
  • NM_020984.3:c.-69+3100C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003055.3:c.1559C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial infantile myasthenia (CMS6)
Synonyms:
Congenital myasthenic syndrome with episodic apnea; Myasthenic syndrome congenital associated with episodic apnea; Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009689; MedGen: C0393929; Orphanet: 590; OMIM: 254210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001138045Mendelicscriteria provided, single submitter
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, SCV001138045.1

#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: Sep 29, 2021

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