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 9:32984784 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012896

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13717

This variant has 42 HGVS names - click the plus to show

9:g.32984784G>A
ENST00000485479.5:c.*347C>T
ENST00000480031.5:c.*411C>T
ENST00000463596.5:c.617C>T
ENSP00000419846.1:p.Pro206Leu
ENST00000309615.7:c.455C>T
ENSP00000311547.4:p.Pro152Leu
ENST00000379825.6:c.659C>T
ENSP00000369153.2:p.Pro220Leu
ENST00000482687.5:c.543+1187C>T
ENST00000495360.5:c.*347C>T
ENST00000486724.5:n.353C>T
ENST00000436040.6:c.617C>T
ENSP00000400806.3:p.Pro206Leu
ENST00000494649.5:c.*462C>T
ENST00000467331.5:c.*462C>T
ENST00000460940.5:c.*388+1187C>T
ENST00000379819.5:c.659C>T
ENSP00000369147.1:p.Pro220Leu
ENST00000472896.5:c.*273+1187C>T
ENST00000468275.5:c.617C>T
ENSP00000420263.1:p.Pro206Leu
ENST00000479656.5:c.*462C>T
ENST00000379813.7:c.599C>T
ENSP00000369141.4:p.Pro200Leu
ENST00000397172.7:c.443C>T
ENSP00000380357.3:p.Pro148Leu
ENST00000465003.5:c.*244C>T
ENST00000478279.5:c.*244C>T
ENST00000379812.9:c.443C>T
ENSP00000369140.5:p.Pro148Leu
ENST00000464632.5:c.*347C>T
ENST00000473221.5:c.497C>T
ENSP00000419020.1:p.Pro166Leu
ENST00000477119.1:c.455C>T
ENSP00000417649.1:p.Pro152Leu
ENST00000476858.5:c.497C>T
ENSP00000419042.1:p.Pro166Leu
ENST00000379817.6:c.617C>T
ENSP00000369145.2:p.Pro206Leu
ENST00000474658.6:c.*60C>T
ENST00000483148.5:c.*170+1187C>T

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 32 transcripts and is associated with 2 phenotypes.

Variant displays