Variant (rsID / SNP)

rs58619430

rs58619430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT5. Location: chromosome 12, position 52,913,579. 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: 12:52913579
Cytoband: 12q13.13
HGVS: NM_000424.4(KRT5):c.502G>A (p.Glu168Lys)
Allele change: Missense_E168K

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.