Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 1:40819893 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM990769, CM990770

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
1:g.40819893G>A
ENST00000509682.6:c.853G>A
ENSP00000423756.2:p.Gly285Ser
ENST00000506017.1:n.172G>A
ENST00000443478.3:c.539G>A
ENSP00000406735.3:p.Gly181Ser
ENST00000347132.9:c.853G>A
ENSP00000262916.6:p.Gly285Ser

Variant allele T
1:g.40819893G>T
ENST00000509682.6:c.853G>T
ENSP00000423756.2:p.Gly285Cys
ENST00000506017.1:n.172G>T
ENST00000443478.3:c.539G>T
ENSP00000406735.3:p.Gly181Cys
ENST00000347132.9:c.853G>T
ENSP00000262916.6:p.Gly285Cys

About this variant

This variant overlaps 8 transcripts, is associated with 5 phenotypes and is mentioned in 2 citations.

Variant displays