Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 15:25340219 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981985

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_049_UBE3A_601623_0005, 10351

This variant has 24 HGVS names - click the plus to show

15:g.25340219C>T
ENST00000566215.5:c.2304G>A
ENSP00000457771.1:p.Trp768Ter
ENST00000397954.6:c.2373G>A
ENSP00000381045.2:p.Trp791Ter
ENST00000626176.2:c.175G>A
ENSP00000487178.1:p.Trp59Ter
ENST00000453082.5:n.4133-33303C>T
ENST00000604860.3:c.315G>A
ENSP00000473822.2:p.Trp105Ter
ENST00000614096.4:c.2364G>A
ENSP00000481796.1:p.Trp788Ter
ENST00000554726.1:n.246-51377C>T
ENST00000438097.5:c.2304G>A
ENSP00000411258.1:p.Trp768Ter
ENST00000232165.7:c.2304G>A
ENSP00000232165.5:p.Trp768Ter
ENST00000630424.2:c.2304G>A
ENSP00000486349.1:p.Trp768Ter
ENST00000428984.6:c.2304G>A
ENSP00000401265.2:p.Trp768Ter
LRG_15:g.103763G>A
LRG_15t1:c.2304G>A
LRG_15p1:p.Trp768Ter

About this variant

This variant overlaps 13 transcripts and is associated with 2 phenotypes.

Variant displays