Variant (rsID / SNP)

rs79378857

rs79378857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,621,017. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL7A1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:48621017
Cytoband: 3p21.31
HGVS: NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu)
Allele change: Missense_P1458L

Associated conditions / phenotypes

Epidermolysis bullosa dystrophica

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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