Lamc3 - SNV Details



 Human Rare Diseases 
Occipital pachygyria and polymicrogyria

 Gene Information 
Gene Name Lamc3
Old Gene Names for Lamc3 Ai562206 , Aw240805
Gene Description laminin gamma 3 [Source:MGI Symbol;Acc:MGI:1344394]
Uniprot Name
CCDS Name
Gene GO
basement membrane; cell adhesion; retina development in camera-type eye; cell morphogenesis involved in differentiation; protein binding; visual perception; extracellular region; astrocyte development
Homolog in other species LAMC3
Omim http://omim.org/entry/604349
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026840
Chromosome 2
Coordinate 31,945,398     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 14
Allele Frequency
A:R0.57
G:V0.43
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02679
Median Base Quality 38.5
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0.66
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved