Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 9:126693589 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981225

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11278, 2010_April_001_040_LMX1B_602575_0001

HGVS names

This variant has 18 HGVS names - Hide

Variant allele A
9:g.126693589C>A
ENST00000526117.5:c.807C>A
ENSP00000436930.1:p.Asn269Lys
ENST00000373474.8:c.807C>A
ENSP00000362573.3:p.Asn269Lys
ENST00000561065.1:c.738C>A
ENSP00000453580.1:p.Asn246Lys
ENST00000355497.9:c.807C>A
ENSP00000347684.5:p.Asn269Lys

Variant allele T
9:g.126693589C>T
ENST00000526117.5:c.807C>T
ENST00000526117.5:c.807C>T(p.=)
ENST00000373474.8:c.807C>T
ENST00000373474.8:c.807C>T(p.=)
ENST00000561065.1:c.738C>T
ENST00000561065.1:c.738C>T(p.=)
ENST00000355497.9:c.807C>T
ENST00000355497.9:c.807C>T(p.=)

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays