Variant (rsID / SNP)

rs61218439

rs61218439 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT1. Location: chromosome 12, position 53,070,099. 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: 12:53070099
Cytoband: 12q13.13
HGVS: NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe)
Allele change: Missense_I479F

Associated conditions / phenotypes

Annular epidermolytic ichthyosis

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.