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 1:235830270 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM970310 ; PhenCode LYSTbase_D0020:g.37656C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14321, NM_000081.2:c.148C>T

HGVS names

This variant has 14 HGVS names - Hide

1:g.235830270G>A
ENST00000489585.5:n.699C>T
ENST00000468107.5:n.675C>T
ENST00000465349.5:n.699C>T
ENST00000389793.6:c.148C>T
ENSP00000374443.2:p.Arg50Ter
ENST00000389794.7:c.148C>T
ENSP00000374444.4:p.Arg50Ter
ENST00000468626.2:n.279C>T
LRG_143:g.58371C>T
LRG_143t2:c.148C>T
LRG_143p2:p.Arg50Ter
LRG_143t1:c.148C>T
LRG_143p1:p.Arg50Ter

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays