Variant (rsID / SNP)

rs60297570

rs60297570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT1. Location: chromosome 12, position 53,072,434. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:53072434
Cytoband: 12q13.13
HGVS: NM_006121.4(KRT1):c.698C>T (p.Ser233Leu)
Allele change: Missense_S233L

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.