Annotation Detail
Information
- Associated Genes
- PLEC
- Associated Variants
-
PLEC p.Arg3139Ter (p.R3139*)
(
ENST00000322810.8,
ENST00000345136.8,
ENST00000354589.7,
ENST00000354958.6,
ENST00000356346.7,
ENST00000357649.6,
ENST00000527096.5,
ENST00000527303.2,
ENST00000398774.6,
ENST00000436759.6,
ENST00000528025.6,
ENST00000685198.1,
ENST00000687971.1,
ENST00000693060.1 )
PLEC p.Arg3139Gly (p.R3139G) ( ENST00000322810.8, ENST00000345136.8, ENST00000354589.7, ENST00000354958.6, ENST00000356346.7, ENST00000357649.6, ENST00000398774.6, ENST00000436759.6, ENST00000527096.5, ENST00000527303.2, ENST00000528025.6, ENST00000685198.1, ENST00000687971.1, ENST00000693060.1 )
PLEC p.Gln415Ter (p.Q415*) ( ENST00000322810.8, ENST00000345136.8, ENST00000354589.7, ENST00000354958.6, ENST00000356346.7, ENST00000357649.6, ENST00000398774.6, ENST00000436759.6, ENST00000527096.5, ENST00000527303.2, ENST00000528025.6, ENST00000685198.1, ENST00000687971.1, ENST00000693060.1 )
PLEC p.Arg3139Ter (p.R3139*) ( ENST00000322810.8, ENST00000345136.8, ENST00000354589.7, ENST00000354958.6, ENST00000356346.7, ENST00000357649.6, ENST00000398774.6, ENST00000436759.6, ENST00000527096.5, ENST00000687971.1, ENST00000693060.1, ENST00000527303.2, ENST00000528025.6, ENST00000685198.1 )
PLEC p.Arg3139Gly (p.R3139G) ( ENST00000322810.8, ENST00000345136.8, ENST00000354589.7, ENST00000354958.6, ENST00000356346.7, ENST00000357649.6, ENST00000398774.6, ENST00000436759.6, ENST00000527096.5, ENST00000527303.2, ENST00000528025.6, ENST00000685198.1, ENST00000687971.1, ENST00000693060.1 )
PLEC p.Gln415Ter (p.Q415*) ( ENST00000322810.8, ENST00000345136.8, ENST00000354589.7, ENST00000354958.6, ENST00000356346.7, ENST00000357649.6, ENST00000398774.6, ENST00000436759.6, ENST00000527096.5, ENST00000527303.2, ENST00000528025.6, ENST00000685198.1, ENST00000687971.1, ENST00000693060.1 ) - Associated Disease
- Epidermolysis Bullosa Simplex With Pyloric Atresia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- NA
Drugs