Original source

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

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

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

Co-located

with HGMD-PUBLIC CM940307

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NP_000082.2:p.ARG1481TER, 887

This variant has 10 HGVS names - click the plus to show

About this variant

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

Variant displays