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 1:40819926 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM080422

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

1:g.40819926G>A
ENST00000509682.6:c.886G>A
ENSP00000423756.2:p.Gly296Ser
ENST00000443478.3:c.572G>A
ENSP00000406735.3:p.Gly192Ser
ENST00000506017.1:n.205G>A
ENST00000347132.9:c.886G>A
ENSP00000262916.6:p.Gly296Ser

About this variant

This variant overlaps 4 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays