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 17:42223478 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM065474 ; PhenCode STAT5Bbase_D0082:g.53986C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12525

HGVS names

This variant has 9 HGVS names - Hide

17:g.42223478G>A
ENST00000468312.1:n.623C>T
ENST00000293328.7:c.454C>T
ENSP00000293328.3:p.Arg152Ter
ENST00000415845.1:c.454C>T
ENSP00000398379.1:p.Arg152Ter
LRG_192:g.57929C>T
LRG_192t1:c.454C>T
LRG_192p1:p.Arg152Ter

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays