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 6:121447274 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM040076

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to show

6:g.121447274G>A
ENST00000282561.3:c.427G>A
ENSP00000282561.3:p.Gly143Ser

About this variant

This variant overlaps 1 transcript and is associated with 3 phenotypes.

Variant displays