Clcn1 - SNV Details



 Human Rare Diseases 
Thomsen and Becker disease

 Gene Information 
Gene Name Clcn1
Old Gene Names for Clcn1 Clc-1 , Clc1
Gene Description chloride channel 1 [Source:MGI Symbol;Acc:MGI:88417]
MGI phenotype Mutant mice exhibit mild to severe spasms of the hind limbs and abnormal hind limb reflexes.
Uniprot Name
CCDS Name
Gene GO
neuronal action potential propagation; membrane; integral to membrane; sarcolemma; chloride channel complex; protein binding; chloride transport; ion channel activity; transmembrane transport; voltage-gated chloride channel activity
Homolog in other species CLCN1
Omim http://omim.org/entry/118425
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029862
Chromosome 6
Coordinate 42,298,829     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 57
Allele Frequency
C:R0.67
T:V0.33
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL02649
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved