chr7:143039094:A>G Detail (hg19) (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	chr7:143,039,094-143,039,094
hg38	chr7:143,342,001-143,342,001 View the variant detail on this assembly version.

HGVS

CLCN1

Type	Transcript	Protein
RefSeq	NM_000083.2:c.1655A>G	NP_000074.2:p.Gln552Arg
	NR_046453.1:c.1655A>G
Ensemble	ENST00000343257.7:c.1655A>G	ENST00000343257.7:p.Gln552Arg
	ENST00000650516.2:c.1655A>G	ENST00000650516.2:p.Gln552Arg

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2002-12-01	no assertion criteria provided	Myotonia levior	germline	Detail
not provided		no assertion provided	Batten-Turner congenital myopathy	unknown	Detail
Pathogenic Likely pathogenic	2023-05-17	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-01-05	criteria provided, single submitter	Congenital myotonia, autosomal recessive form,Congenital myotonia, autosomal dominant form	germline	Detail
Pathogenic	2024-01-05	criteria provided, single submitter	Congenital myotonia, autosomal recessive form,Congenital myotonia, autosomal dominant form	germline	Detail
Likely pathogenic	2017-06-23	criteria provided, single submitter	Congenital myotonia, autosomal dominant form	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.388	myotonia congenita	NA	CLINVAR		Detail
0.120	Myotonia levior	NA	CLINVAR		Detail
0.120	Myotonia levior	We report a CLCN1 Gln-552-Arg substitution for a family with dominant inheritanc...	BeFree	7581380	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) AND Myotonia levior	ClinVar	Detail
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) AND Batten-Turner congenital myopathy	ClinVar	Detail
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) AND not provided	ClinVar	Detail
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) AND multiple conditions	ClinVar	Detail
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) AND multiple conditions	ClinVar	Detail
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) AND Congenital myotonia, autosomal dominant form	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We report a CLCN1 Gln-552-Arg substitution for a family with dominant inheritance previously diagnos...	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: rs80356696 dbSNP
Genome: hg19
Position: chr7:143,039,094-143,039,094
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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