Original source

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

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

Chromosome 10:93793207 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM070982

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12771, 2010_April_001_049_LGI1_604619_0009

HGVS names

This variant has 14 HGVS names - Hide

10:g.93793207T>C
ENST00000630047.2:c.551T>C
ENSP00000485917.1:p.Leu184Pro
ENST00000626946.1:n.365T>C
ENST00000627420.2:c.*404T>C
ENST00000629035.2:c.623T>C
ENSP00000486908.1:p.Leu208Pro
ENST00000626307.1:n.4610T>C
ENST00000371413.4:c.695T>C
ENSP00000360467.3:p.Leu232Pro
ENST00000630487.2:c.*485T>C
ENST00000630412.1:n.483T>C
ENST00000371418.8:c.695T>C
ENSP00000360472.4:p.Leu232Pro

About this variant

This variant overlaps 12 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays