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Variant (rsID / SNP)

rs886058642

COL7A1

rs886058642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,628,250. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL7A1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:48628250
Cytoband
3p21.31
HGVS
NM_000094.4(COL7A1):c.1637-1G>A
Allele change
Silent

Associated conditions / phenotypes

Epidermolysis bullosa dystrophica|7 conditions

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.