chr7:143039088:C>T Detail (hg19) (CLCN1)

Information

Genome

Assembly Position
hg19 chr7:143,039,088-143,039,088
hg38 chr7:143,341,995-143,341,995 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000083.2:c.1649C>T NP_000074.2:p.Thr550Met
NR_046453.1:c.1649C>T
Ensemble ENST00000343257.7:c.1649C>T ENST00000343257.7:p.Thr550Met
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
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 COSM5997703 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Batten-Turner congenital myopathy germline Detail
Pathogenic 2024-01-17 criteria provided, single submitter Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form germline Detail
Pathogenic 2024-01-17 criteria provided, single submitter Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form germline Detail
Pathogenic 2022-03-03 criteria provided, multiple submitters, no conflicts Congenital myotonia, autosomal recessive form germline Detail
Pathogenic 2023-07-01 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
Annotation

Annotations

DescrptionSourceLinks
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) AND Batten-Turner congenital myopathy ClinVar Detail
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) AND Congenital myotonia, autosomal recessive form ClinVar Detail
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) AND not provided 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
rs762754992 dbSNP
Genome
hg19
Position
chr7:143,039,088-143,039,088
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121182
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.126025317291347E-5
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