Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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

Co-located

with COSMIC COSM1579303 (C/T), COSM1637833 (C/A) ; HGMD-PUBLIC CM0910627, CM930250

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 1934

This variation has 22 HGVS names - click the plus to show

Variant allele A
4:g.154585711C>A
ENST00000302053.5:c.1718G>T
ENSP00000306361.3:p.Arg573Leu
ENST00000403106.5: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
ENST00000302053.5:c.1718G>A
ENSP00000306361.3:p.Arg573His
ENST00000403106.5: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 variation has assays on: HumanCoreExome-12

Variation displays