Original source

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

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

Chromosome 1:235788701 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM021558 ; PhenCode LYSTbase_D0020:g.79225G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000081.2:c.4688G>A, 14324

HGVS names

This variant has 11 HGVS names - Hide

1:g.235788701C>T
ENST00000492844.1:n.148G>A
ENST00000489585.5:n.5239G>A
ENST00000389793.6:c.4688G>A
ENSP00000374443.2:p.Arg1563His
ENST00000389794.7:c.*112G>A
LRG_143:g.99940G>A
LRG_143t2:c.4688G>A
LRG_143p2:p.Arg1563His
LRG_143t1:c.4688G>A
LRG_143p1:p.Arg1563His

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays