Variant (rsID / SNP)

rs828367

rs828367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT1. Location: chromosome 12, position 53,074,058. Clinical significance in the table: Benign.

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Reference-table entries

KRT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:53074058
Cytoband: 12q13.13
HGVS: NM_006121.4(KRT1):c.75C>T (p.Ile25=)
Allele change: Synonymous_I25I

Associated conditions / phenotypes

Diffuse nonepidermolytic palmoplantar keratoderma|Bullous ichthyosiform erythroderma

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.