Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 6:79916743 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM045143

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13233, 2010_April_001_045_ELOVL4_605512_0004

HGVS names

This variant has 3 HGVS names - Hide

6:g.79916743G>C
ENST00000369816.4:c.810C>G
ENSP00000358831.4:p.Tyr270Ter

About this variant

This variant overlaps 1 transcript and is associated with 2 phenotypes.

Variant displays