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 2:113244494 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981479

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_099_PAX8_167415_0002, 4515

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

2:g.113244494G>A
ENST00000263334.8:c.322C>T
ENSP00000263334.6:p.Arg108Ter
ENST00000436293.5:n.355-6273G>A
ENST00000556070.4:n.35+8924G>A
ENST00000429538.6:c.322C>T
ENSP00000395498.3:p.Arg108Ter
ENST00000263335.10:c.322C>T
ENSP00000263335.7:p.Arg108Ter
ENST00000397647.6:c.322C>T
ENSP00000380768.3:p.Arg108Ter
ENST00000451179.4:n.164+6282G>A
ENST00000616073.3:n.141+7872G>A
ENST00000348715.8:c.322C>T
ENSP00000314750.5:p.Arg108Ter
ENST00000624706.2:n.150-6273G>A
ENST00000445745.4:n.377+7881G>A
ENST00000422956.5:n.35+8924G>A
ENST00000617509.3:n.151+7872G>A
ENST00000467778.4:n.486C>T
ENST00000333145.8:n.132+7881G>A
ENST00000553869.5:n.154+6282G>A
ENST00000623306.2:n.147-6273G>A
ENST00000554830.2:c.-40-1716C>T

About this variant

This variant overlaps 24 transcripts and is associated with 2 phenotypes.

Variation displays