Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 19:33302164 (forward strand)|View in location tab

Co-located variant

COSMIC COSM1378

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_017_CEBPA_116897_0003, 807

HGVS names

This variant has 6 HGVS names - Hide

19:g.33302164T>A
ENST00000498907.2:c.251A>T
ENSP00000427514.1:p.His84Leu
LRG_456:g.5361A>T
LRG_456t1:c.251A>T
LRG_456p1:p.His84Leu

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays