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
Evidence status

Clinical significance

Synonyms

LSDB 4518, 2010_April_001_102_PAX8_167415_0005

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

2:g.113246775C>T
ENST00000263334.8:c.170G>A
ENSP00000263334.6:p.Cys57Tyr
ENST00000556070.4:n.35+11205C>T
ENST00000429538.6:c.170G>A
ENSP00000395498.3:p.Cys57Tyr
ENST00000436293.5:n.355-3992C>T
ENST00000263335.10:c.170G>A
ENSP00000263335.7:p.Cys57Tyr
ENST00000451179.4:n.164+8563C>T
ENST00000397647.6:c.170G>A
ENSP00000380768.3:p.Cys57Tyr
ENST00000616073.3:n.142-8615C>T
ENST00000348715.8:c.170G>A
ENSP00000314750.5:p.Cys57Tyr
ENST00000445745.4:n.378-8615C>T
ENST00000624706.2:n.150-3992C>T
ENST00000617509.3:n.152-8615C>T
ENST00000422956.5:n.36-8615C>T
ENST00000467778.4:n.334G>A
ENST00000333145.8:n.133-8615C>T
ENST00000553869.5:n.154+8563C>T
ENST00000623306.2:n.147-3992C>T
ENST00000554830.2:c.-40-3997G>A

About this variant

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

Variation displays