Variant (rsID / SNP)

rs144520865

rs144520865 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT1. Location: chromosome 12, position 53,068,882. 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: 12:53068882
Cytoband: 12q13.13
HGVS: NM_006121.4(KRT1):c.*95G>A
Allele change: Silent

Associated conditions / phenotypes

Bullous ichthyosiform erythroderma|Diffuse nonepidermolytic palmoplantar keratoderma

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.