chr7:143018813:GG>TC Detail (hg19) (CLCN1)

Information

Genome

Assembly Position
hg19 chr7:143,018,813-143,018,814
hg38 chr7:143,321,720-143,321,721 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000083.2:c.568_569delinsTC NP_000074.2:p.Gly190Ser
NR_046453.1:c.568_569delinsTC
Ensemble ENST00000343257.7:c.568_569delinsTC ENST00000343257.7:p.Gly190Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 118425 OMIM
HGNC 2019 HGNC
Ensembl ENSG00000188037 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts Congenital myotonia, autosomal recessive form germline Detail
Conflicting interpretations of pathogenicity 2023-08-17 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic Likely pathogenic 2023-11-05 criteria provided, multiple submitters, no conflicts Congenital myotonia, autosomal recessive form,Congenital myotonia, autosomal dominant form germline Detail
Pathogenic Likely pathogenic 2023-11-05 criteria provided, multiple submitters, no conflicts Congenital myotonia, autosomal recessive form,Congenital myotonia, autosomal dominant form germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter myocardial infarction unknown Detail
Pathogenic 2021-09-27 criteria provided, single submitter Congenital myotonia, autosomal dominant form germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.321 Becker Generalized Myotonia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND Congenital myotonia, autosomal recessive form ClinVar Detail
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND not provided ClinVar Detail
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND Congenital myotonia, autosomal dominant form ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs797045032 dbSNP
Genome
hg19
Position
chr7:143,018,813-143,018,814
Variant Type
snv
Reference Allele
GG
Alternative Allele
TC
Genome browser