Cldn19 - SNV Details



 Human Rare Diseases 
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement

 Gene Information 
Gene Name Cldn19
Gene Description claudin 19 [Source:MGI Symbol;Acc:MGI:3033992]
Uniprot Name
CCDS Name
Gene GO
apical junction complex; tight junction; apical junction assembly; neuronal action potential propagation; membrane; integral to membrane; cytoplasm; cell junction; nucleus; structural molecule activity; identical protein binding; basolateral plasma membrane; calcium-independent cell-cell adhesion
Homolog in other species CLDN19
Omim http://omim.org/entry/610036
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000066058
Chromosome 4
Coordinate 119,255,724     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 18
Allele Frequency
G:R0.67
A:V0.33
Amino Acid Change W->Stop (Tryptophan -> Stop)
Sample ID IGL02560
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved