Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 4:1002087 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960875

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6457

HGVS names

This variant has 6 HGVS names - Hide

4:g.1002087G>A
ENST00000514224.1:c.502G>A
ENSP00000425081.1:p.Ala168Thr
ENST00000514698.5:n.898G>A
ENST00000247933.8:c.898G>A
ENSP00000247933.4:p.Ala300Thr

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays