Variant (rsID / SNP)

rs61729223

rs61729223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,610,625. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL7A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:48610625
Cytoband: 3p21.31
HGVS: NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)
Allele change: Synonymous_P2232P

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.