Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

G/C | Ancestral: G | Ambiguity code: S

Chromosome 2:219421380 (forward strand) | View in location tab


with COSMIC COSM1016736 (G/A) ; HGMD-PUBLIC CM052845 ; PhenCode HIFD_DES:c.1064G>C (G/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

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

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays