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 11:17453151 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072831

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

11:g.17453151C>T
ENST00000389817.6:c.1144G>A
ENSP00000374467.3:p.Glu382Lys
ENST00000527905.4:c.1144G>A
ENSP00000431653.1:p.Glu382Lys
ENST00000532728.4:n.1175G>A
ENST00000302539.7:c.1144G>A
ENSP00000303960.4:p.Glu382Lys

About this variant

This variant overlaps 4 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays