Variant (rsID / SNP)

rs805698

rs805698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL17A1. Location: chromosome 10, position 105,816,916. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL17A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:105816916
Cytoband: 10q25.1
HGVS: NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser)
Allele change: Missense_G428S

Associated conditions / phenotypes

Junctional epidermolysis bullosa, non-Herlitz type|Epithelial recurrent erosion dystrophy

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.