chr7:143039106:T>A Detail (hg19) (CLCN1)

Information

Genome

Assembly Position
hg19 chr7:143,039,106-143,039,106
hg38 chr7:143,342,013-143,342,013 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000083.2:c.1667T>A NP_000074.2:p.Ile556Asn
NR_046453.1:c.1667T>A
Ensemble ENST00000343257.7:c.1667T>A ENST00000343257.7:p.Ile556Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 2023-08-10 criteria provided, single submitter Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form germline Detail
Pathogenic 2023-08-10 criteria provided, single submitter Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form germline Detail
Likely pathogenic criteria provided, multiple submitters, no conflicts Congenital myotonia, autosomal recessive form germline Detail
Likely pathogenic 2022-10-19 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.388 myotonia congenita NA CLINVAR Detail
0.495 Generalized Myotonia of Thomsen A parallel was drawn between this unprecedented situation and that of myotonia c... BeFree 19882638 Detail
0.321 Becker Generalized Myotonia Autosomal-dominant and -recessive myotonia congenita are caused by mutations in ... UNIPROT 9566422 Detail
0.388 myotonia congenita A parallel was drawn between this unprecedented situation and that of myotonia c... BeFree 19882638 Detail
0.495 Generalized Myotonia of Thomsen Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with vario... UNIPROT 9566422 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) AND Congenital myotonia, autosomal recessive form ClinVar Detail
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) AND not provided ClinVar Detail
NA DisGeNET Detail
A parallel was drawn between this unprecedented situation and that of myotonia congenita by includin... DisGeNET Detail
Autosomal-dominant and -recessive myotonia congenita are caused by mutations in the skeletal muscle ... DisGeNET Detail
A parallel was drawn between this unprecedented situation and that of myotonia congenita by includin... DisGeNET Detail
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inherita... 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
rs80356697 dbSNP
Genome
hg19
Position
chr7:143,039,106-143,039,106
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121150
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.650846058605035E-5
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