NM_000079.3(CHRNA1):c.737C>T (p.Ser246Phe) AND Myasthenic syndrome, slow-channel congenital

Clinical significance:Pathogenic (Last evaluated: Jun 15, 1999)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000122733.3

Allele description [Variation Report for NM_000079.3(CHRNA1):c.737C>T (p.Ser246Phe)]

NM_000079.3(CHRNA1):c.737C>T (p.Ser246Phe)

Gene:
CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_000079.3(CHRNA1):c.737C>T (p.Ser246Phe)
HGVS:
  • NC_000002.12:g.174753544G>A
  • NG_008172.1:g.15929C>T
  • NM_000079.3:c.737C>T
  • NM_001039523.2:c.812C>T
  • NP_000070.1:p.Ser246Phe
  • NP_001034612.1:p.Ser271Phe
  • NC_000002.11:g.175618272G>A
Protein change:
S246F
Links:
dbSNP: rs483353046
NCBI 1000 Genomes Browser:
rs483353046
Molecular consequence:
  • NM_001039523.2:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myasthenic syndrome, slow-channel congenital (CMS1A)
Synonyms:
CMS IIa; Myasthenic Syndromes, Congenital, Slow Channel; MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; See all synonyms [MedGen]
Identifiers:
MedGen: C0751885; Orphanet: 590; OMIM: 601462

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000165960Mayo Muscle Lab, Mayo Clinicno assertion criteria providedPathogenic
(Jun 15, 1999)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot provided4not providedresearch

Details of each submission

From Mayo Muscle Lab, Mayo Clinic, SCV000165960.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes4not providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018