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 15:25370865 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971559

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_048_UBE3A_601623_0004, 10350

HGVS names

This variant has 22 HGVS names - Hide

15:g.25370865G>A
ENST00000453082.5:n.4133-2657G>A
ENST00000554726.1:n.246-20731G>A
ENST00000232165.7:c.1249C>T
ENSP00000232165.5:p.Arg417Ter
ENST00000566215.5:c.1249C>T
ENSP00000457771.1:p.Arg417Ter
ENST00000397954.6:c.1318C>T
ENSP00000381045.2:p.Arg440Ter
ENST00000614096.4:c.1309C>T
ENSP00000481796.1:p.Arg437Ter
ENST00000625778.2:c.1249C>T
ENSP00000487217.1:p.Arg417Ter
ENST00000438097.5:c.1249C>T
ENSP00000411258.1:p.Arg417Ter
ENST00000428984.6:c.1249C>T
ENSP00000401265.2:p.Arg417Ter
ENST00000630424.2:c.1249C>T
ENSP00000486349.1:p.Arg417Ter
LRG_15:g.73117C>T
LRG_15t1:c.1249C>T
LRG_15p1:p.Arg417Ter

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variant displays