chr7:143027881:C>T Detail (hg19) (CLCN1)

Information

Genome

Assembly Position
hg19 chr7:143,027,881-143,027,881
hg38 chr7:143,330,788-143,330,788 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000083.2:c.870C>T NP_000074.2:p.Ile290=
NR_046453.1:c.870C>T
Ensemble ENST00000343257.7:c.870C>T ENST00000343257.7:p.Ile290=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Likely benign
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 tgv31298110 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2023-11-10 criteria provided, single submitter Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form germline Detail
Likely benign 2023-11-10 criteria provided, single submitter Congenital myotonia, autosomal dominant form,Congenital myotonia, autosomal recessive form germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.495 Generalized Myotonia of Thomsen NA CLINVAR Detail
0.388 myotonia congenita NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000083.3(CLCN1):c.870C>T (p.Ile290=) AND multiple conditions ClinVar Detail
NM_000083.3(CLCN1):c.870C>T (p.Ile290=) AND multiple conditions ClinVar Detail
NA DisGeNET 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
-
Genome
hg19
Position
chr7:143,027,881-143,027,881
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.80to99.90
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs80356690
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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)
121364
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4719027059094953E-5
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