Variant (rsID / SNP)

rs57599352

rs57599352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT5. Location: chromosome 12, position 52,910,472. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRT5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:52910472
Cytoband: 12q13.13
HGVS: NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)
Allele change: Missense_L463P

Associated conditions / phenotypes

Epidermolysis bullosa simplex|Epidermolysis bullosa simplex 2B, generalized intermediate

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.