Original source

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

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

Chromosome 1:173904028 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930057

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 374

HGVS names

This variant has 8 HGVS names - Hide

1:g.173904028G>A
ENST00000367698.3:c.1256C>T
ENSP00000356671.3:p.Ala419Val
ENST00000617423.4:c.641C>T
ENSP00000478688.1:p.Ala214Val
LRG_577:g.18351C>T
LRG_577t1:c.1256C>T
LRG_577p1:p.Ala419Val

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays