Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs121912847

COL7A1

rs121912847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,618,704. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL7A1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:48618704
Cytoband
3p21.31
HGVS
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter)
Allele change
Nonsense_R1630X

Associated conditions / phenotypes

Epidermolysis bullosa pruriginosa, autosomal recessive|Epidermolysis bullosa dystrophica inversa, autosomal recessive|Recessive dystrophic epidermolysis bullosa

Public references

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