Variant (rsID / SNP)

rs267607463

rs267607463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT6A. Location: chromosome 12, position 52,882,143. Clinical significance in the table: Pathogenic.

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Reference-table entries

KRT6APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:52882143
Cytoband: 12q13.13
HGVS: NM_005554.4(KRT6A):c.1393T>C (p.Tyr465His)
Allele change: Missense_Y465H

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.