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 2:240875159 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970066

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12569, NM_000030.2:c.731T>C

HGVS names

This variant has 4 HGVS names - Hide

2:g.240875159T>C
ENST00000476698.1:n.383T>C
ENST00000307503.3:c.731T>C
ENSP00000302620.3:p.Ile244Thr

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays