Variant (rsID / SNP)

rs17678945

rs17678945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT1. Location: chromosome 12, position 53,070,174. 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: 12:53070174
Cytoband: 12q13.13
HGVS: NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser)
Allele change: Missense_A454S

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.