Original source

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

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

Chromosome 2:178453570 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM062579

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16688

HGVS names

This variant has 8 HGVS names - Hide

2:g.178453570C>T
ENST00000442710.5:c.3C>T
ENSP00000410776.1:p.Thr2Ile
ENST00000375129.8:c.161C>T
ENSP00000364271.4:p.Thr54Ile
ENST00000409117.7:c.161C>T
ENSP00000386647.3:p.Thr54Ile
ENST00000437056.5:n.320C>T

About this variant

This variant overlaps 16 transcripts and is associated with 2 phenotypes.

Variant displays