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 2:96254050 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM101225

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_017849.3:c.475C>T

HGVS names

This variant has 10 HGVS names - Hide

2:g.96254050G>A
ENST00000435268.1:c.223C>T
ENSP00000411810.1:p.Gln75Ter
ENST00000258439.7:c.475C>T
ENSP00000258439.2:p.Gln159Ter
ENST00000432959.1:c.475C>T
ENSP00000416660.1:p.Gln159Ter
LRG_528:g.16964C>T
LRG_528t1:c.475C>T
LRG_528p1:p.Gln159Ter

About this variant

This variant overlaps 4 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays