Variant (rsID / SNP)

rs267607448

rs267607448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT5. Location: chromosome 12, position 52,910,449. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KRT5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:52910449
Cytoband: 12q13.13
HGVS: NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)
Allele change: Missense_R471C

Associated conditions / phenotypes

Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex|Epidermolysis bullosa simplex 1C, localized

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.