Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 4:154589507 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910607

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1930

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

4:g.154589507G>A
ENST00000302053.7:c.110C>T
ENSP00000306361.3:p.Pro37Leu
ENST00000403106.7:c.110C>T
ENSP00000385981.3:p.Pro37Leu
ENST00000622532.1:c.110C>T
ENSP00000478487.1:p.Pro37Leu
LRG_557:g.6239C>T
LRG_557t2:c.110C>T
LRG_557p2:p.Pro37Leu
LRG_557t1:c.110C>T
LRG_557p1:p.Pro37Leu

About this variant

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

Variant displays