Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 2:227309007 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940308

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 888, NP_000082.2:p.SER1524TER

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays