Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 2:240871379 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930014

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12568, NM_000030.2:c.454T>A

HGVS names

This variant has 5 HGVS names - Hide

2:g.240871379T>A
ENST00000476698.1:n.191T>A
ENST00000472436.1:n.474T>A
ENST00000307503.3:c.454T>A
ENSP00000302620.3:p.Phe152Ile

About this variant

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

Variant displays