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

Co-located

with HGMD-PUBLIC CM930057

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 374

This variant has 5 HGVS names - click the plus to show

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

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

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

Variant displays