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NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) AND SCN4A-related non-dystrophic myotonia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 2022
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:
RCV002267639.4

Allele description [Variation Report for NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)]

NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)

Genes:
GH-LCR:growth hormone locus control region [Gene]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)
HGVS:
  • NC_000017.11:g.63951639TCT[1]
  • NG_011699.1:g.26277AAG[1]
  • NG_042788.1:g.34547TCT[1]
  • NM_000334.4:c.2635AAG[1]MANE SELECT
  • NP_000325.4:p.Lys880del
  • NC_000017.10:g.62028997_62028999del
  • NC_000017.10:g.62028999TCT[1]
  • NM_000334.4:c.2638_2640delMANE SELECT
Protein change:
K880del
Links:
dbSNP: rs760403755
NCBI 1000 Genomes Browser:
rs760403755
Molecular consequence:
  • NM_000334.4:c.2635AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
SCN4A-related non-dystrophic myotonia
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002549809Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
no assertion criteria provided
Uncertain significance
(Apr 6, 2022) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, SCV002549809.1

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

Last Updated: Apr 15, 2024