Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 4:154585711 (forward strand)|View in location tab

Co-located variants
Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

LSDB 1934

HGVS names

This variant has 22 HGVS names - Hide

Variant allele A
4:g.154585711C>A
ENST00000302053.7:c.1718G>T
ENSP00000306361.3:p.Arg573Leu
ENST00000403106.7:c.1718G>T
ENSP00000385981.3:p.Arg573Leu
ENST00000622532.1:c.644-1G>T
LRG_557:g.10035G>T
LRG_557t1:c.1718G>T
LRG_557p1:p.Arg573Leu
LRG_557t2:c.1718G>T
LRG_557p2:p.Arg573Leu

Variant allele T
4:g.154585711C>T
ENST00000302053.7:c.1718G>A
ENSP00000306361.3:p.Arg573His
ENST00000403106.7:c.1718G>A
ENSP00000385981.3:p.Arg573His
ENST00000622532.1:c.644-1G>A
LRG_557:g.10035G>A
LRG_557t1:c.1718G>A
LRG_557p1:p.Arg573His
LRG_557t2:c.1718G>A
LRG_557p2:p.Arg573His

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays