Variant (rsID / SNP)
rs121912855
rs121912855 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,612,651. Clinical significance in the table: Pathogenic.
Reference-table entries
COL7A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:48612651
- Cytoband
- 3p21.31
- HGVS
- NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
- Allele change
- Missense_R2069C
Associated conditions / phenotypes
Epidermolysis 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.