Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

C/G/T | Ancestral: C | Ambiguity code: B

Chromosome 12:52676282 (forward strand) | View in location tab


with HGMD-PUBLIC CM920395 ; PhenCode HIFD_KRT1:c.1468G>C (C/G), HIFD_KRT1:c.1468G>A (C/T)

Most severe consequence
Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

Variation displays