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 18:55228987 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072075

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10927

This variant has 53 HGVS names - click the plus to show

18:g.55228987C>T
ENST00000570177.6:c.1337G>A
ENSP00000454647.1:p.Arg446Gln
ENST00000568740.5:c.1652G>A
ENSP00000455346.1:p.Arg551Gln
ENST00000565018.6:c.1475G>A
ENSP00000455984.2:p.Arg492Gln
ENST00000626466.1:n.762G>A
ENST00000568673.5:c.1667G>A
ENSP00000455135.1:p.Arg556Gln
ENST00000566279.5:c.1559G>A
ENSP00000456125.1:p.Arg520Gln
ENST00000537578.5:c.1667G>A
ENSP00000440731.1:p.Arg556Gln
ENST00000544241.6:c.1526G>A
ENSP00000441562.2:p.Arg509Gln
ENST00000629387.2:c.1739G>A
ENSP00000486670.1:p.Arg580Gln
ENST00000562680.5:n.5262G>A
ENST00000398339.5:c.2045G>A
ENSP00000381382.1:p.Arg682Gln
ENST00000564403.6:c.1757G>A
ENSP00000457263.1:p.Arg586Gln
ENST00000570287.6:c.1247G>A
ENSP00000455763.1:p.Arg416Gln
ENST00000543082.5:c.1601G>A
ENSP00000439656.1:p.Arg534Gln
ENST00000537856.7:c.1337G>A
ENSP00000439827.2:p.Arg446Gln
ENST00000567880.5:c.1547G>A
ENSP00000454366.1:p.Arg516Gln
ENST00000564228.5:c.1514G>A
ENSP00000455261.1:p.Arg505Gln
ENST00000566286.5:c.1718G>A
ENSP00000455418.2:p.Arg573Gln
ENST00000354452.7:c.1739G>A
ENSP00000346440.3:p.Arg580Gln
ENST00000540999.5:c.1655G>A
ENSP00000445202.1:p.Arg552Gln
ENST00000561831.7:c.1247G>A
ENSP00000457765.1:p.Arg416Gln
ENST00000564999.5:c.1727G>A
ENSP00000457649.1:p.Arg576Gln
ENST00000616053.4:c.1475G>A
ENSP00000478549.1:p.Arg492Gln
ENST00000626584.2:c.1079G>A
ENSP00000486072.1:p.Arg360Gln
ENST00000457482.7:c.1259G>A
ENSP00000409447.2:p.Arg420Gln
ENST00000561992.5:c.1337G>A
ENSP00000455179.1:p.Arg446Gln
ENST00000356073.8:c.1727G>A
ENSP00000348374.4:p.Arg576Gln

About this variant

This variant overlaps 28 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays