Original source

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

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

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

Co-located

with HGMD-PUBLIC CM041424

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15855

This variant has 3 HGVS names - click the plus to show

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