Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 2:227307898 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940307

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 887, NP_000082.2:p.ARG1481TER

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays