Original source

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

Alleles
C/T | Ambiguity code: Y
Location

Chromosome 19:14564841 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM111494

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB TECR_P182L

This variant has 23 HGVS names - click the plus to show

19:g.14564841C>T
ENST00000601461.1:n.629C>T
ENST00000600395.5:n.286C>T
ENST00000599101.5:n.148C>T
ENST00000593637.5:n.716C>T
ENST00000601350.5:n.92C>T
ENST00000596073.5:c.80C>T
ENSP00000472697.1:p.Pro27Leu
ENST00000598333.5:c.*192C>T
ENST00000597607.5:n.585C>T
ENST00000593775.5:n.144C>T
ENST00000594545.5:c.80C>T
ENSP00000469343.1:p.Pro27Leu
ENST00000601187.1:c.115C>T
ENSP00000472957.1:p.Leu39Phe
ENST00000596953.5:n.601C>T
ENST00000598987.5:c.*432C>T
ENST00000215567.9:c.545C>T
ENSP00000215567.4:p.Pro182Leu
ENST00000600083.5:c.80C>T
ENSP00000472114.1:p.Pro27Leu
ENST00000598298.5:c.80C>T
ENSP00000471341.1:p.Pro27Leu

About this variant

This variant overlaps 26 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays