rs1368134215, COL7A1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
0.010 GeneticVariation BEFREE The compound heterozygosity for the -96C-->T null mutation and for the R1978X mutation leads to the absence of COLVII at skin level and to the severe phenotype of the HS-RDEB patient.Hum Mutat 16:275, 2000. 10980546 2000
Epidermolysis Bullosa Dystrophica
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
0.010 GeneticVariation BEFREE We report two novel mutations found in a patient affected by the most severe form of DEB, the recessive Hallopeau-Siemens variant (HS-RDEB): the R1978X nonsense mutation, in exon 72, and the -96C-->T transition, in the promoter region. 10980546 2000