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 6:10402590 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM085953

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 445

This variant has 21 HGVS names - click the plus to show

6:g.10402590C>T
ENST00000498450.1:c.356G>A
ENSP00000419961.1:p.Gly119Glu
ENST00000478375.5:n.785G>A
ENST00000461628.5:c.108G>A
ENSP00000417735.1:p.Gly37Glu
ENST00000475264.5:c.499G>A
ENSP00000419696.1:p.Gly167Glu
ENST00000379613.7:c.791G>A
ENSP00000368933.3:p.Gly264Glu
ENST00000379608.7:c.767G>A
ENSP00000368928.3:p.Gly256Glu
ENST00000466073.5:c.785G>A
ENSP00000417495.1:p.Gly262Glu
ENST00000488193.5:c.*282G>A
ENST00000489805.5:c.*282G>A
ENST00000319516.8:c.773G>A
ENSP00000316516.4:p.Gly258Glu
ENST00000497266.5:n.756G>A
ENST00000482890.5:c.785G>A
ENSP00000418541.1:p.Gly262Glu

About this variant

This variant overlaps 16 transcripts and is associated with 2 phenotypes.

Variant displays