Original source

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

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

Chromosome 11:124865591 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041424

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15855

HGVS names

This variant has 3 HGVS names - Hide

11:g.124865591T>C
ENST00000397801.5:c.14T>C
ENSP00000380903.1:p.Leu5Pro

About this variant

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

Variant displays