Variant (rsID / SNP)

rs57629991

rs57629991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT6A. Location: chromosome 12, position 52,882,151. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KRT6APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:52882151
Cytoband: 12q13.13
HGVS: NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn)
Allele change: Missense_I462N

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.