Original source

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

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

Chromosome 18:55228993 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM085735, CM085734

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10930

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

18:g.55228993C>G
ENST00000570177.6:c.1331G>C
ENSP00000454647.1:p.Arg444Pro
ENST00000568740.5:c.1646G>C
ENSP00000455346.1:p.Arg549Pro
ENST00000565018.6:c.1469G>C
ENSP00000455984.2:p.Arg490Pro
ENST00000626466.1:n.756G>C
ENST00000566279.5:c.1553G>C
ENSP00000456125.1:p.Arg518Pro
ENST00000568673.5:c.1661G>C
ENSP00000455135.1:p.Arg554Pro
ENST00000537578.5:c.1661G>C
ENSP00000440731.1:p.Arg554Pro
ENST00000562680.5:n.5256G>C
ENST00000629387.2:c.1733G>C
ENSP00000486670.1:p.Arg578Pro
ENST00000544241.6:c.1520G>C
ENSP00000441562.2:p.Arg507Pro
ENST00000564403.6:c.1751G>C
ENSP00000457263.1:p.Arg584Pro
ENST00000398339.5:c.2039G>C
ENSP00000381382.1:p.Arg680Pro
ENST00000570287.6:c.1241G>C
ENSP00000455763.1:p.Arg414Pro
ENST00000543082.5:c.1595G>C
ENSP00000439656.1:p.Arg532Pro
ENST00000566286.5:c.1712G>C
ENSP00000455418.2:p.Arg571Pro
ENST00000564228.5:c.1508G>C
ENSP00000455261.1:p.Arg503Pro
ENST00000537856.7:c.1331G>C
ENSP00000439827.2:p.Arg444Pro
ENST00000567880.5:c.1541G>C
ENSP00000454366.1:p.Arg514Pro
ENST00000354452.7:c.1733G>C
ENSP00000346440.3:p.Arg578Pro
ENST00000540999.5:c.1649G>C
ENSP00000445202.1:p.Arg550Pro
ENST00000561831.7:c.1241G>C
ENSP00000457765.1:p.Arg414Pro
ENST00000564999.5:c.1721G>C
ENSP00000457649.1:p.Arg574Pro
ENST00000616053.4:c.1469G>C
ENSP00000478549.1:p.Arg490Pro
ENST00000626584.2:c.1073G>C
ENSP00000486072.1:p.Arg358Pro
ENST00000457482.7:c.1253G>C
ENSP00000409447.2:p.Arg418Pro
ENST00000356073.8:c.1721G>C
ENSP00000348374.4:p.Arg574Pro
ENST00000561992.5:c.1331G>C
ENSP00000455179.1:p.Arg444Pro

About this variant

This variant overlaps 28 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays