Lamc2 - SNV Details



 Human Rare Diseases 
Junctional epidermolysis bullosa inversa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type

 Gene Information 
Gene Name Lamc2
Old Gene Names for Lamc2 Aa589349
Gene Description laminin, gamma 2 [Source:MGI Symbol;Acc:MGI:99913]
MGI phenotype Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.
Uniprot Name
CCDS Name
Gene GO
laminin-2 complex; basement membrane; perinuclear region of cytoplasm; membrane; cell cortex; proteinaceous extracellular matrix; protein binding; heparin binding; extracellular space; laminin-5 complex
Homolog in other species LAMC2
Omim http://omim.org/entry/150292
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EMB GROUP, EPITH GROUP, SALIVARYGLAND, THYROID, PLACENTA, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026479
Chromosome 1
Coordinate 153,136,783     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 59
Allele Frequency
T:R0.58
A:V0.42
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL02801
Median Base Quality 38
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.14
Polyphen Prediction Benign

 Availability Details 
Availability