U.S. flag

An official website of the United States government

NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del) AND Familial hyperkalemic periodic paralysis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 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:
RCV002306246.3

Allele description [Variation Report for NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del)]

NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del)

Gene:
CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del)
HGVS:
  • NC_000007.14:g.143351637_143351639del
  • NG_009815.2:g.40512_40514del
  • NM_000083.3:c.2639_2641delMANE SELECT
  • NP_000074.3:p.Leu880del
  • NC_000007.13:g.143048730_143048732del
  • NM_000083.3:c.2638_2640delMANE SELECT
  • NR_046453.2:n.2594_2596del
Protein change:
L880del
Molecular consequence:
  • NM_000083.3:c.2639_2641del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_046453.2:n.2594_2596del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial hyperkalemic periodic paralysis
Synonyms:
Hyperkalemic periodic paralysis; Gamstorp episodic adynamy; Gamstorp disease
Identifiers:
MONDO: MONDO:0008224; MedGen: C0238357; Orphanet: 682; OMIM: 170500; Human Phenotype Ontology: HP:0007215

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002600042Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
no assertion criteria provided
Uncertain significance
(Apr 12, 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, SCV002600042.1

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

Last Updated: Sep 16, 2024