Variant (rsID / SNP)

rs267607462

rs267607462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT6A. Location: chromosome 12, position 52,882,149. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KRT6APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:52882149
Cytoband: 12q13.13
HGVS: NM_005554.4(KRT6A):c.1387G>C (p.Ala463Pro)
Allele change: Missense_A463P

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.