Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B|MAF: < 0.01 (T)
Location

Chromosome 2:219425727 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4464813 ; HGMD-PUBLIC CM000369 ; PhenCode HIFD_DES:c.1353C>G (C/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes and is associated with 5 phenotypes.

Variant displays