Variant (rsID / SNP)

rs2228561

rs2228561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,628,014. Clinical significance in the table: Benign.

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Reference-table entries

COL7A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:48628014
Cytoband: 3p21.31
HGVS: NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu)
Allele change: Missense_P595L

Associated conditions / phenotypes

Epidermolysis bullosa dystrophica|Recessive dystrophic epidermolysis bullosa

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.