Variant (rsID / SNP)

rs121912845

rs121912845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,617,734. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL7A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:48617734
Cytoband: 3p21.31
HGVS: NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
Allele change: Missense_P1699L

Associated conditions / phenotypes

Epidermolysis bullosa, pretibial, autosomal recessive|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.