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
Evidence status

Clinical significance

Synonyms

LSDB 15855

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

11:g.124865591T>C
ENST00000397801.4:c.14T>C
ENSP00000380903.1:p.Leu5Pro

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variation displays