Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:235806051 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM970311 ; PhenCode LYSTbase_D0020:g.61875C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_000081.2:c.3085C>T, 14322

HGVS names

This variant has 12 HGVS names - Hide

1:g.235806051G>A
ENST00000489585.5:n.3636C>T
ENST00000465349.5:n.3636C>T
ENST00000389793.6:c.3085C>T
ENSP00000374443.2:p.Gln1029Ter
ENST00000389794.7:c.3085C>T
ENSP00000374444.4:p.Gln1029Ter
LRG_143:g.82590C>T
LRG_143t2:c.3085C>T
LRG_143p2:p.Gln1029Ter
LRG_143t1:c.3085C>T
LRG_143p1:p.Gln1029Ter

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays