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 11:2166693 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001358

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

11:g.2166693C>T
ENST00000352909.7:c.917G>A
ENSP00000325951.3:p.Arg306His
ENST00000324155.8:c.*606G>A
ENST00000381178.5:c.1010G>A
ENSP00000370571.1:p.Arg337His
ENST00000479437.5:n.466G>A
ENST00000333684.9:c.696-144G>A
ENST00000461172.1:n.82G>A
ENST00000416223.5:c.*75G>A
ENST00000381168.7:c.*637G>A
ENST00000412076.1:c.136-144G>A
ENST00000381175.5:c.998G>A
ENSP00000370567.1:p.Arg333His

About this variant

This variant overlaps 11 transcripts and is associated with 3 phenotypes.

Variant displays