COL7A1 Chromosome 3
Collagen type VII alpha 1 chain
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What This Gene Does
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Collagens|Fibronectin type III domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000114270
Associated Conditions (49)
Inborn genetic diseases
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder
Epidermolysis bullosa dystrophica
7 conditions
Epidermolysis bullosa dystrophica inversa
autosomal recessive
Cervical cancer
Gastric cancer
Ovarian cancer
Uterine corpus endometrial carcinoma
Familial pancreatic carcinoma
Sarcoma
Duane retraction syndrome
Generalized dominant dystrophic epidermolysis bullosa
Amelogenesis imperfecta type 1
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Hepatoblastoma
Malignant tumor of esophagus
+29 more conditions
Key Variants
RS1051072287
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057517724
Conflicting classifications of pathogenicity
Recessive dystrophic epidermolysis bullosa, COL7A1-related disorder, Recessive dystrophic epidermolysis bullosa
Health Risk
RS1057520568
Conflicting classifications of pathogenicity
Health Risk
RS1064797080
Conflicting classifications of pathogenicity
Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
Health Risk
RS111360822
Conflicting classifications of pathogenicity
Epidermolysis bullosa dystrophica, COL7A1-related disorder, Epidermolysis bullosa dystrophica
Health Risk
RS111460426
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113483524
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116005007
Conflicting classifications of pathogenicity
7 conditions, Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
Health Risk
RS1170510858
Conflicting classifications of pathogenicity
Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
Health Risk
RS1171778175
Conflicting classifications of pathogenicity
7 conditions, 7 conditions
Health Risk
RS117857033
Conflicting classifications of pathogenicity
Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
Health Risk
RS1189071165
Conflicting classifications of pathogenicity
Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
Health Risk
All Variants (1137)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786204774 | Health Risk | Likely pathogenic | Epidermolysis bullosa dystrophica, 7 conditions, Epidermolysis bullosa dystrophica |
| RS786205561 | Health Risk | Likely pathogenic | — |
| RS986004460 | Health Risk | Likely pathogenic | 7 conditions, 7 conditions |
| RS989893662 | Health Risk | Likely pathogenic | Recessive dystrophic epidermolysis bullosa, 7 conditions, Recessive dystrophic epidermolysis bullosa |
| RS1012398135 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1013627013 | Health Risk | Pathogenic | — |
| RS1021165801 | Health Risk | Pathogenic | — |
| RS1055680335 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa, 7 conditions |
| RS1057517720 | Health Risk | Pathogenic | — |
| RS1057517721 | Health Risk | Pathogenic | Epidermolysis bullosa, Epidermolysis bullosa |
| RS1057517722 | Health Risk | Pathogenic | Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa |
| RS1057517723 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa, autosomal recessive |
| RS1057517725 | Health Risk | Pathogenic | 7 conditions, 7 conditions |
| RS1057517726 | Health Risk | Pathogenic | — |
| RS1057517969 | Health Risk | Pathogenic | — |
| RS1057520566 | Health Risk | Pathogenic | — |
| RS1057520567 | Health Risk | Pathogenic | — |
| RS1057520599 | Health Risk | Pathogenic | — |
| RS1057520693 | Health Risk | Pathogenic | — |
| RS1057523751 | Health Risk | Pathogenic | — |
| RS1064793499 | Health Risk | Pathogenic | — |
| RS1064793904 | Health Risk | Pathogenic | — |
| RS1064793908 | Health Risk | Pathogenic | — |
| RS1064793915 | Health Risk | Pathogenic | — |
| RS1064793916 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa pruriginosa |
| RS1064795917 | Health Risk | Pathogenic | — |
| RS1064797078 | Health Risk | Pathogenic | Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS1064797079 | Health Risk | Pathogenic | Recessive dystrophic epidermolysis bullosa, 7 conditions, COL7A1-related disorder |
| RS1064797082 | Health Risk | Pathogenic | Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS1085307849 | Health Risk | Pathogenic | — |
| RS1131691385 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa, autosomal recessive |
| RS1131691559 | Health Risk | Pathogenic | — |
| RS1131691601 | Health Risk | Pathogenic | — |
| RS113597796 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1158768165 | Health Risk | Pathogenic | — |
| RS1160109522 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1165239659 | Health Risk | Pathogenic | — |
| RS1166683325 | Health Risk | Pathogenic | 7 conditions, 7 conditions |
| RS1179199637 | Health Risk | Pathogenic | — |
| RS1186291778 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1189942401 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, 7 conditions, Recessive dystrophic epidermolysis bullosa |
| RS1202682853 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1203706188 | Health Risk | Pathogenic | 7 conditions, Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa |
| RS1205027821 | Health Risk | Pathogenic | Epidermolysis bullosa dystrophica, 7 conditions, Epidermolysis bullosa dystrophica |
| RS1210912397 | Health Risk | Pathogenic | 7 conditions, 7 conditions |
| RS1211890738 | Health Risk | Pathogenic | Pretibial dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica, Pretibial dystrophic epidermolysis bullosa |
| RS121912829 | Health Risk | Pathogenic | Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa |
| RS121912830 | Health Risk | Pathogenic | Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS121912831 | Health Risk | Pathogenic | Pretibial dystrophic epidermolysis bullosa, Pretibial dystrophic epidermolysis bullosa |
| RS121912832 | Health Risk | Pathogenic | Dominant dystrophic epidermolysis bullosa with absence of skin, Inborn genetic diseases, Epidermolysis bullosa dystrophica |