Variant (rsID / SNP)

rs2253798

rs2253798 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT78. Location: chromosome 12, position 53,242,579. The table records no clinical significance for this variant.

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Reference-table entries

KRT78Not classified

Variant type: missense_variant
Chromosome / position: 12:53242579
HGVS: NM_173352.4,c.136G>A,p.Gly46Arg
Allele change: Missense_G46R

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.