Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 9:126693273 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981215

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11284, 2010_April_001_044_LMX1B_602575_0007

HGVS names

This variant has 9 HGVS names - Hide

9:g.126693273C>T
ENST00000526117.5:c.691C>T
ENSP00000436930.1:p.Arg231Ter
ENST00000373474.8:c.691C>T
ENSP00000362573.3:p.Arg231Ter
ENST00000561065.1:c.622C>T
ENSP00000453580.1:p.Arg208Ter
ENST00000355497.9:c.691C>T
ENSP00000347684.5:p.Arg231Ter

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays