Original source

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

Alleles
T/C/G|Ancestral: T|Ambiguity code: B
Location

Chromosome 2:74378058 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM090400

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_004082.4:c.221A>C, 9927

HGVS names

This variant has 58 HGVS names - Show

About this variant

This variant overlaps 40 transcripts and is associated with 2 phenotypes.

Variant displays