Original source

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

A/C/G | Ancestral: A | Ambiguity code: V

Chromosome 12:52302256 (forward strand) | View in location tab


with HGMD-PUBLIC CM992904, CM990784 ; PhenCode HIFD_KRT86:c.340A>G (A/G), HIFD_KRT86:c.340A>C (A/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

About this variant

This variant overlaps 8 transcripts and is associated with 4 phenotypes.

Variation displays