Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 2:113246760 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981478

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4517, 2010_April_001_101_PAX8_167415_0004

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

2:g.113246760A>C
ENST00000263334.9:c.185T>G
ENSP00000263334.6:p.Leu62Arg
ENST00000429538.7:c.185T>G
ENSP00000395498.3:p.Leu62Arg
ENST00000436293.6:n.355-4007A>C
ENST00000556070.5:n.35+11190A>C
ENST00000263335.11:c.185T>G
ENSP00000263335.7:p.Leu62Arg
ENST00000397647.7:c.185T>G
ENSP00000380768.3:p.Leu62Arg
ENST00000451179.5:n.164+8548A>C
ENST00000616073.4:n.142-8630A>C
ENST00000348715.9:c.185T>G
ENSP00000314750.5:p.Leu62Arg
ENST00000445745.5:n.378-8630A>C
ENST00000624706.3:n.150-4007A>C
ENST00000422956.6:n.36-8630A>C
ENST00000617509.4:n.152-8630A>C
ENST00000467778.5:n.349T>G
ENST00000333145.9:n.133-8630A>C
ENST00000623306.3:n.147-4007A>C
ENST00000553869.6:n.154+8548A>C
ENST00000554830.2:c.-40-3982T>G

About this variant

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

Variant displays