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 4:185146939 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM003620

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_076_SLC25A4_103220_0002

HGVS names

This variant has 4 HGVS names - Hide

4:g.185146939G>A
ENST00000491736.1:c.*642G>A
ENST00000281456.10:c.865G>A
ENSP00000281456.5:p.Val289Met

About this variant

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

Variant displays