Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 8:99717219 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM031145

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15252

HGVS names

This variant has 10 HGVS names - Hide

8:g.99717219T>G
ENST00000358544.6:c.6578T>G
ENSP00000351346.2:p.Leu2193Arg
ENST00000357162.6:c.6503T>G
ENSP00000349685.2:p.Leu2168Arg
LRG_351:g.708954T>G
LRG_351t2:c.6503T>G
LRG_351p2:p.Leu2168Arg
LRG_351t1:c.6578T>G
LRG_351p1:p.Leu2193Arg

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays