Original source

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

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

Chromosome 2:219421365 (forward strand) | View in location tab


with COSMIC COSM1530836 (G/T) ; HGMD-PUBLIC CM051448 ; PhenCode HIFD_DES:c.1049G>C (G/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 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 5 phenotypes.

Variant displays