Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 4:185144992 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM003619

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_075_SLC25A4_103220_0001

HGVS names

This variant has 5 HGVS names - Hide

4:g.185144992G>C
ENST00000491736.1:c.340G>C
ENSP00000476711.1:p.Ala114Pro
ENST00000281456.10:c.340G>C
ENSP00000281456.5:p.Ala114Pro

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays