Variant (rsID / SNP)

rs757688782

rs757688782 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,623,044. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL7A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 3:48623044
Cytoband: 3p21.31
HGVS: NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)

Associated conditions / phenotypes

Transient bullous dermolysis of the newborn|Epidermolysis bullosa dystrophica inversa, autosomal recessive|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.