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 4:154586390 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM040741

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 1946

This variant has 11 HGVS names - click the plus to show

4:g.154586390G>A
ENST00000302053.7:c.1039C>T
ENSP00000306361.3:p.Gln347Ter
ENST00000403106.7:c.1039C>T
ENSP00000385981.3:p.Gln347Ter
ENST00000622532.1:c.643+396C>T
LRG_557:g.9356C>T
LRG_557t2:c.1039C>T
LRG_557p2:p.Gln347Ter
LRG_557t1:c.1039C>T
LRG_557p1:p.Gln347Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays