Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 6:112069548 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991255

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11868

HGVS names

This variant has 16 HGVS names - Hide

6:g.112069548G>A
ENST00000361714.5:c.993G>A
ENSP00000354734.2:p.Trp331Ter
ENST00000620524.3:n.924G>A
ENST00000409166.5:c.321G>A
ENSP00000386467.1:p.Trp107Ter
ENST00000454589.5:c.*397G>A
ENST00000368663.4:c.*299G>A
ENST00000613648.1:n.828G>A
ENST00000368664.7:c.*397G>A
ENST00000230529.9:c.993G>A
ENSP00000230529.5:p.Trp331Ter
ENST00000368666.6:c.1047G>A
ENSP00000357655.3:p.Trp349Ter
ENST00000604763.5:c.993G>A
ENSP00000473777.1:p.Trp331Ter

About this variant

This variant overlaps 14 transcripts and is associated with 2 phenotypes.

Variant displays