chr7:143321432:C>G Detail (hg38) (CLCN1)

Information

Genome

Assembly Position
hg19 chr7:143,018,525-143,018,525 View the variant detail on this assembly version.
hg38 chr7:143,321,432-143,321,432

HGVS

Type Transcript Protein
RefSeq NM_000083.2:c.501C>G NP_000074.2:p.Phe167Leu
NR_046453.1:c.501C>G
Ensemble ENST00000343257.7:c.501C>G ENST00000343257.7:p.Phe167Leu
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 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 tgv352845542 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-07-09 criteria provided, single submitter Congenital myotonia, autosomal dominant form germline Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations Congenital myotonia, autosomal recessive form germline unknown Detail
Likely pathogenic 2015-01-23 criteria provided, single submitter unknown Detail
Conflicting interpretations of pathogenicity 2024-01-15 criteria provided, conflicting interpretations not specified germline Detail
Uncertain significance 2022-11-01 criteria provided, single submitter Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form germline unknown Detail
Uncertain significance 2022-11-01 criteria provided, single submitter Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form germline unknown Detail
Conflicting interpretations of pathogenicity 2023-03-29 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic 2021-06-25 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.321 Becker Generalized Myotonia NA CLINVAR Detail
0.495 Generalized Myotonia of Thomsen NA CLINVAR Detail
0.321 Becker Generalized Myotonia Nonsense and missense mutations of the muscle chloride channel gene in patients ... UNIPROT 7874130 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND Congenital myotonia, autosomal dominant form ClinVar Detail
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND Congenital myotonia, autosomal recessive form ClinVar Detail
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND Myotonia ClinVar Detail
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND not specified ClinVar Detail
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND not provided ClinVar Detail
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND Tip-toe gait ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congen... 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
rs149729531 dbSNP
Genome
hg38
Position
chr7:143,321,432-143,321,432
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121392
Allele Counts in All Race (ExAC)
132
Heterozygous Counts in All Race (ExAC)
132
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0010873863187030447
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