chr7:143330789:G>A Detail (hg38) (CLCN1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:143,027,882-143,027,882 View the variant detail on this assembly version.
hg38	chr7:143,330,789-143,330,789

HGVS

CLCN1

Type	Transcript	Protein
RefSeq	NM_000083.2:c.871G>A	NP_000074.2:p.Glu291Lys
	NR_046453.1:c.871G>A
Ensemble	ENST00000343257.7:c.871G>A	ENST00000343257.7:p.Glu291Lys
	ENST00000650516.2:c.871G>A	ENST00000650516.2:p.Glu291Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

CLCN1

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	COSM1201277	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-07-12	criteria provided, single submitter	Congenital myotonia, autosomal recessive form	germline	Detail
Pathogenic	2023-12-30	criteria provided, single submitter	Congenital myotonia, autosomal recessive form,Congenital myotonia, autosomal dominant form	germline	Detail
Pathogenic	2023-12-30	criteria provided, single submitter	Congenital myotonia, autosomal recessive form,Congenital myotonia, autosomal dominant form	germline	Detail
Pathogenic Likely pathogenic	2022-04-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2024-04-04	criteria provided, multiple submitters, no conflicts	Congenital myotonia, autosomal dominant form	germline paternal	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.321	Becker Generalized Myotonia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) AND Congenital myotonia, autosomal recessive form	ClinVar	Detail
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) AND multiple conditions	ClinVar	Detail
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) AND multiple conditions	ClinVar	Detail
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) AND not provided	ClinVar	Detail
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) 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: rs121912805 dbSNP
Genome: hg38
Position: chr7:143,330,789-143,330,789
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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