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 4:154585712 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930251

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

LSDB 1936

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

4:g.154585712G>A
ENST00000302053.7:c.1717C>T
ENSP00000306361.3:p.Arg573Cys
ENST00000403106.7:c.1717C>T
ENSP00000385981.3:p.Arg573Cys
ENST00000622532.1:c.644-2C>T
LRG_557:g.10034C>T
LRG_557t1:c.1717C>T
LRG_557p1:p.Arg573Cys
LRG_557t2:c.1717C>T
LRG_557p2:p.Arg573Cys

About this variant

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

Variant displays