Variant (rsID / SNP)
rs886044621
rs886044621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,622,473. Clinical significance in the table: Pathogenic.
Reference-table entries
COL7A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 3:48622473
- Cytoband
- 3p21.31
- HGVS
- NM_000094.4(COL7A1):c.3971del (p.Leu1324fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.