chr7:143043717:G> Detail (hg19) (CLCN1)

Information

Genome

Assembly Position
hg19 chr7:143,043,717-143,043,717
hg38 chr7:143,346,624-143,346,624 

HGVS

Type Transcript Protein
RefSeq NM_000083.2:c.2330delG NP_000074.2:p.Gly777AlafsTer17
NR_046453.1:c.2330delG
Ensemble ENST00000343257.7:c.2330delG ENST00000343257.7:p.Gly777AlafsTer17
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided Batten-Turner congenital myopathy unknown 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.2330del (p.Gly777fs) AND Batten-Turner congenital myopathy 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
rs80356707 dbSNP
Genome
hg19
Position
chr7:143,043,717-143,043,717
Variant Type
snv
Reference Allele
G
Alternative Allele
-
Genome browser