Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 9:32974495 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012898

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_011_APTX_606350_0006, 13721

This variant has 32 HGVS names - click the plus to show

9:g.32974495C>T
ENST00000485479.5:c.*567G>A
ENST00000479656.5:c.*682G>A
ENST00000379813.7:c.819G>A
ENSP00000369141.4:p.Trp273Ter
ENST00000397172.7:c.663G>A
ENSP00000380357.3:p.Trp221Ter
ENST00000463596.5:c.837G>A
ENSP00000419846.1:p.Trp279Ter
ENST00000309615.7:c.675G>A
ENSP00000311547.4:p.Trp225Ter
ENST00000465003.5:c.*464G>A
ENST00000482687.5:c.*31G>A
ENST00000379825.6:c.879G>A
ENSP00000369153.2:p.Trp293Ter
ENST00000495360.5:c.*567G>A
ENST00000436040.6:c.837G>A
ENSP00000400806.3:p.Trp279Ter
ENST00000494649.5:c.*682G>A
ENST00000476858.5:c.717G>A
ENSP00000419042.1:p.Trp239Ter
ENST00000467331.5:c.*682G>A
ENST00000379817.6:c.837G>A
ENSP00000369145.2:p.Trp279Ter
ENST00000460940.5:c.*455G>A
ENST00000379819.5:c.879G>A
ENSP00000369147.1:p.Trp293Ter
ENST00000474658.6:c.*280G>A
ENST00000483148.5:c.*237G>A
ENST00000472896.5:c.*340G>A
ENST00000468275.5:c.837G>A
ENSP00000420263.1:p.Trp279Ter

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 21 transcripts and is associated with 2 phenotypes.

Variant displays