Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 4:154589505 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010045

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1929

This variant has 12 HGVS names - click the plus to show

4:g.154589505T>C
ENST00000302053.7:c.112A>G
ENSP00000306361.3:p.Arg38Gly
ENST00000403106.7:c.112A>G
ENSP00000385981.3:p.Arg38Gly
ENST00000622532.1:c.112A>G
ENSP00000478487.1:p.Arg38Gly
LRG_557:g.6241A>G
LRG_557t1:c.112A>G
LRG_557p1:p.Arg38Gly
LRG_557t2:c.112A>G
LRG_557p2:p.Arg38Gly

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays