Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 2:27313032 (forward strand) | View in location tab

Co-located

with COSMIC COSM3391675 (G/A), COSM3391676 (G/A) ; HGMD-PUBLIC CM061856

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_002437.4:c.148C>T, 2178

This variant has 29 HGVS names - click the plus to show

About this variant

This variant overlaps 23 transcripts and is associated with 2 phenotypes.

Variant displays