Variant (rsID / SNP)

rs117564807

rs117564807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL17A1. Location: chromosome 10, position 105,800,115. Clinical significance in the table: Benign.

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Reference-table entries

COL17A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:105800115
Cytoband: 10q25.1
HGVS: NM_000494.4(COL17A1):c.2755G>A (p.Asp919Asn)
Allele change: Missense_D919N

Associated conditions / phenotypes

Junctional epidermolysis bullosa, non-Herlitz type

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.