NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000626583.1

Allele description [Variation Report for NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)]

NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)

Gene:
CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
HGVS:
  • NC_000007.14:g.143321720_143321721delinsTC
  • NG_009815.1:g.10595_10596delinsTC
  • NG_009815.2:g.10595_10596delinsTC
  • NM_000083.3:c.568_569delinsTCMANE SELECT
  • NP_000074.3:p.Gly190Ser
  • NC_000007.13:g.143018813_143018814delinsTC
  • NM_000083.2:c.568_569delGGinsTC
  • NR_046453.2:n.670_671delinsTC
  • p.GLY190SER
Protein change:
G190S
Links:
dbSNP: rs797045032
NCBI 1000 Genomes Browser:
rs797045032
Molecular consequence:
  • NM_000083.3:c.568_569delinsTC - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046453.2:n.670_671delinsTC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Myocardial infarction
Synonyms:
Heart attack; MI
Identifiers:
MONDO: MONDO:0005068; MedGen: C0027051; Human Phenotype Ontology: HP:0001658
Name:
Headache
Synonyms:
Headaches
Identifiers:
MedGen: C0018681; Human Phenotype Ontology: HP:0002315
Name:
Rigidity
Synonyms:
Muscle rigidity
Identifiers:
MedGen: C0026837; Human Phenotype Ontology: HP:0002063
Name:
Vertigo
Synonyms:
Dizziness; Dizzy spell
Identifiers:
MedGen: C0042571; Human Phenotype Ontology: HP:0002321
Name:
Myotonia of the upper limb
Identifiers:
MedGen: C4022683; Human Phenotype Ontology: HP:0012903
Name:
EMG: myotonic discharges
Identifiers:
MedGen: C4022169; Human Phenotype Ontology: HP:0100284

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000747284Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jan 1, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000747284.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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