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 16:3247171 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041801

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 27 HGVS names - click the plus to show

16:g.3247171G>A
ENST00000621655.1:c.799C>T
ENSP00000481436.1:p.His267Tyr
ENST00000538326.5:c.*57C>T
ENST00000219596.5:c.1432C>T
ENSP00000219596.1:p.His478Tyr
ENST00000576315.5:c.*65C>T
ENST00000536980.5:c.799C>T
ENSP00000444178.1:p.His267Tyr
ENST00000339854.8:c.892C>T
ENSP00000339639.4:p.His298Tyr
ENST00000536379.5:c.799C>T
ENSP00000445079.1:p.His267Tyr
ENST00000541159.5:c.799C>T
ENSP00000438711.1:p.His267Tyr
ENST00000570511.5:c.*65C>T
ENST00000539154.1:n.797C>T
ENST00000574583.5:c.*65C>T
ENST00000542898.5:c.1525C>T
ENSP00000444615.1:p.His509Tyr
ENST00000572244.5:c.278-624C>T
ENST00000537682.5:c.1432C>T
ENSP00000438611.1:p.His478Tyr
ENST00000539145.5:c.*65C>T
LRG_190:g.14457C>T
LRG_190t1:c.1432C>T
LRG_190p1:p.His478Tyr

About this variant

This variant overlaps 16 transcripts and is associated with 3 phenotypes.

Variant displays