Original source

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

Alleles
G/A/T | Ancestral: G | Ambiguity code: D
Location

Chromosome 2:208124294 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072969, CM020930

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 5 phenotypes.

Variant displays