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 2:113246775 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010369

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4518, 2010_April_001_102_PAX8_167415_0005

This variant has 24 HGVS names - click the plus to show

2:g.113246775C>T
ENST00000263334.9:c.170G>A
ENSP00000263334.6:p.Cys57Tyr
ENST00000556070.5:n.35+11205C>T
ENST00000436293.6:n.355-3992C>T
ENST00000429538.7:c.170G>A
ENSP00000395498.3:p.Cys57Tyr
ENST00000263335.11:c.170G>A
ENSP00000263335.7:p.Cys57Tyr
ENST00000451179.5:n.164+8563C>T
ENST00000397647.7:c.170G>A
ENSP00000380768.3:p.Cys57Tyr
ENST00000616073.4:n.142-8615C>T
ENST00000348715.9:c.170G>A
ENSP00000314750.5:p.Cys57Tyr
ENST00000445745.5:n.378-8615C>T
ENST00000624706.3:n.150-3992C>T
ENST00000422956.6:n.36-8615C>T
ENST00000617509.4:n.152-8615C>T
ENST00000467778.5:n.334G>A
ENST00000333145.9:n.133-8615C>T
ENST00000553869.6:n.154+8563C>T
ENST00000623306.3:n.147-3992C>T
ENST00000554830.2:c.-40-3997G>A

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variant displays