Gene entry
COL7A1
collagen type VII alpha 1 chain
- Chromosome
- 3
- Cytoband
- 3p21.31
- Variants (rsID)
- 31
COL7A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “collagen type VII alpha 1 chain”. The reference table lists 31 variants (rsID) for this gene.
Clinically classified variants
22 reference-table entries with clinical significance.
- rs1264194Benignsingle nucleotide variantEpidermolysis bullosa dystrophica
- rs2228561Benignsingle nucleotide variantEpidermolysis bullosa dystrophica|Recessive dystrophic epidermolysis bullosa
- rs61729223Benignsingle nucleotide variantEpidermolysis bullosa dystrophica
- rs74390291Benignsingle nucleotide variantEpidermolysis bullosa dystrophica
- rs79378857Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa dystrophica
- rs121912836Pathogenicsingle nucleotide variantGeneralized dominant dystrophic epidermolysis bullosa|Pretibial dystrophic epidermolysis bullosa|Epidermolysis bullosa dystrophica
- rs121912837Pathogenicsingle nucleotide variantEpidermolysis bullosa pruriginosa, autosomal dominant
- rs121912839Pathogenicsingle nucleotide variantRecessive dystrophic epidermolysis bullosa|Nonsyndromic congenital nail disorder 8|Generalized dominant dystrophic epidermolysis bullosa|Epidermolysis bullosa dystrophica
- rs121912844Pathogenicsingle nucleotide variantGeneralized dominant dystrophic epidermolysis bullosa|Epidermolysis bullosa dystrophica|Generalized dominant dystrophic epidermolysis bullosa|Recessive dystrophic epidermolysis bullosa
- rs121912845Pathogenicsingle nucleotide variantEpidermolysis bullosa, pretibial, autosomal recessive|Epidermolysis bullosa dystrophica
- rs121912846Pathogenicsingle nucleotide variantGeneralized dominant dystrophic epidermolysis bullosa
- rs121912847Pathogenicsingle nucleotide variantEpidermolysis bullosa pruriginosa, autosomal recessive|Epidermolysis bullosa dystrophica inversa, autosomal recessive|Recessive dystrophic epidermolysis bullosa
- rs121912849Pathogenicsingle nucleotide variantRecessive dystrophic epidermolysis bullosa|Epidermolysis bullosa dystrophica
- rs121912852Pathogenicsingle nucleotide variantRecessive dystrophic epidermolysis bullosa|Epidermolysis bullosa dystrophica
- rs121912854Pathogenicsingle nucleotide variantEpidermolysis bullosa dystrophica inversa, autosomal recessive|Recessive dystrophic epidermolysis bullosa|14 conditions|Epidermolysis bullosa dystrophica
- rs121912855Pathogenicsingle nucleotide variantEpidermolysis bullosa dystrophica inversa, autosomal recessive|14 conditions|Abnormal blistering of the skin|Epidermolysis bullosa pruriginosa|Generalized dominant dystrophic epidermolysis bullosa|Epidermolysis bullosa dystrophica|Recessive dystrophic epidermolysis bullosa
- rs143457874Pathogenicsingle nucleotide variantEpidermolysis bullosa dystrophica inversa, autosomal recessive
- rs757688782PathogenicDeletionTransient bullous dermolysis of the newborn|Epidermolysis bullosa dystrophica inversa, autosomal recessive|Recessive dystrophic epidermolysis bullosa
- rs780261665Pathogenicsingle nucleotide variantPalmoplantar blistering|Short stature|Toe syndactyly|Finger syndactyly|Anonychia|Skin erosion|Abnormality of the skin|Nail dystrophy|Abnormal blistering of the skin|Epidermolysis bullosa pruriginosa|Recessive dystrophic epidermolysis bullosa
- rs886044621PathogenicDeletion
- rs886058642Pathogenicsingle nucleotide variantEpidermolysis bullosa dystrophica|7 conditions
- rs142566193Uncertain significancesingle nucleotide variantRecessive dystrophic epidermolysis bullosa|Inborn genetic diseases|Epidermolysis bullosa dystrophica|Epidermolysis bullosa dystrophica inversa, autosomal recessive
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.