Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM090399

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_004082.4:c.214A>C

HGVS names

This variant has 29 HGVS names - Show

About this variant

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

Variant displays