Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variants

COSMIC COSM1530836 ; 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 - Show

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 12 transcripts and is associated with 5 phenotypes.

Variant displays