Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 10:93777551 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM082912, CM115347

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12773

HGVS names

This variant has 14 HGVS names - Hide

10:g.93777551T>A
ENST00000627075.1:n.75-526A>T
ENST00000630047.2:c.288-12548T>A
ENST00000627420.2:c.*78-12548T>A
ENST00000485458.2:n.280T>A
ENST00000629035.2:c.293T>A
ENSP00000486908.1:p.Ile98Lys
ENST00000371413.4:c.365T>A
ENSP00000360467.3:p.Ile122Lys
ENST00000630487.2:c.*155T>A
ENST00000371418.8:c.365T>A
ENSP00000360472.4:p.Ile122Lys
ENST00000630184.2:c.365T>A
ENSP00000486607.1:p.Ile122Lys

About this variant

This variant overlaps 10 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays