Epidermolysis bullosa pruriginosa
An Autosomal dominant, Autosomal recessive mode(s) within the Skin disorders category
Conflicting classifications of pathogenicity
1
Likely pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000094.4(COL7A1):c.5765G>T (p.Gly1922Val) | Single nucleotide variant | Chr3:48576407 | Likely pathogenic | Missense variant | rs2107680342 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter) | Single nucleotide variant | Chr3:48564798 | Conflicting classifications of pathogenicity | Nonsense | rs767051948 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln) | Single nucleotide variant | Chr3:48566730 | Likely pathogenic | Missense variant | rs377182638 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000094.4(COL7A1):c.8101G>T (p.Gly2701Trp) | Single nucleotide variant | Chr3:48567136 | Likely pathogenic | Missense variant | rs1575418015 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar