Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 11:124868837 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041425

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15856

HGVS names

This variant has 5 HGVS names - Hide

11:g.124868837A>C
ENST00000397801.5:c.196A>C
ENSP00000380903.1:p.Ile66Leu
ENST00000538940.5:c.130A>C
ENSP00000441797.1:p.Ile44Leu

About this variant

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

Variant displays