Original source

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

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

Chromosome 11:124872919 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041428

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15852

HGVS names

This variant has 5 HGVS names - Hide

11:g.124872919G>T
ENST00000538940.5:c.1300G>T
ENSP00000441797.1:p.Gly434Ter
ENST00000397801.5:c.1366G>T
ENSP00000380903.1:p.Gly456Ter

About this variant

This variant overlaps 19 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays