Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 17:81511078 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM033588

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 18 HGVS names - click the plus to show

17:g.81511078G>A
ENST00000584254.1:n.32C>T
ENST00000576209.4:n.718C>T
ENST00000576917.4:n.965C>T
ENST00000572105.5:c.*277C>T
ENST00000615544.3:c.833C>T
ENSP00000477968.1:p.Thr278Ile
ENST00000575842.4:c.833C>T
ENSP00000458162.1:p.Thr278Ile
ENST00000573283.4:c.833C>T
ENSP00000458435.1:p.Thr278Ile
ENST00000331925.5:c.833C>T
ENSP00000331514.2:p.Thr278Ile
ENST00000574671.4:n.692C>T
ENST00000575087.4:c.833C>T
ENSP00000459124.1:p.Thr278Ile
ENST00000576544.4:c.833C>T
ENSP00000461672.1:p.Thr278Ile

About this variant

This variant overlaps 20 transcripts and is associated with 3 phenotypes.

Variation displays