Original source

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

C/A/T | Ancestral: C | Ambiguity code: H

Chromosome 2:127426180 (forward strand) | View in location tab


with HGMD-PUBLIC CM880060

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 22 transcripts and is associated with 3 phenotypes.

Variant displays