Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 5:78129219 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM991256

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003664.3:c.1739T>G, 11879

This variant has 9 HGVS names - click the plus to show

5:g.78129219A>C
ENST00000255194.10:c.1739T>G
ENSP00000255194.6:p.Leu580Arg
ENST00000519295.5:c.1592T>G
ENSP00000430597.1:p.Leu531Arg
ENST00000517561.1:n.117T>G
LRG_170:g.170486T>G
LRG_170t1:c.1739T>G
LRG_170p1:p.Leu580Arg

About this variant

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

Variant displays