Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 2:74378065 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM090399

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_004082.4:c.214A>C

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

About this variant

This variant overlaps 20 transcripts and is associated with 1 phenotype.

Variant displays