Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 1:40819465 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990768

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.40819465G>C
ENST00000509682.6:c.827G>C
ENSP00000423756.2:p.Trp276Ser
ENST00000443478.3:c.513G>C
ENSP00000406735.3:p.Trp172Ser
ENST00000506017.1:n.146G>C
ENST00000347132.9:c.827G>C
ENSP00000262916.6:p.Trp276Ser

About this variant

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

Variant displays