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 4:185144945 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM014091

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_077_SLC25A4_103220_0003

HGVS names

This variant has 5 HGVS names - Hide

4:g.185144945T>C
ENST00000491736.1:c.293T>C
ENSP00000476711.1:p.Leu98Pro
ENST00000281456.10:c.293T>C
ENSP00000281456.5:p.Leu98Pro

About this variant

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

Variant displays