Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 15:25371798 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041095

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10352, 2010_April_001_050_UBE3A_601623_0006

This variant has 29 HGVS names - click the plus to show

15:g.25371798T>G
ENST00000628733.2:c.376A>C
ENSP00000486388.1:p.Thr126Pro
ENST00000453082.5:n.4133-1724T>G
ENST00000554726.1:n.246-19798T>G
ENST00000626793.2:n.427A>C
ENST00000232165.7:c.316A>C
ENSP00000232165.5:p.Thr106Pro
ENST00000626068.2:c.397A>C
ENSP00000487534.1:p.Thr133Pro
ENST00000566215.5:c.316A>C
ENSP00000457771.1:p.Thr106Pro
ENST00000397954.6:c.385A>C
ENSP00000381045.2:p.Thr129Pro
ENST00000630907.2:c.376A>C
ENSP00000485958.1:p.Thr126Pro
ENST00000614096.4:c.376A>C
ENSP00000481796.1:p.Thr126Pro
ENST00000625778.2:c.316A>C
ENSP00000487217.1:p.Thr106Pro
ENST00000438097.5:c.316A>C
ENSP00000411258.1:p.Thr106Pro
ENST00000630424.2:c.316A>C
ENSP00000486349.1:p.Thr106Pro
ENST00000428984.6:c.316A>C
ENSP00000401265.2:p.Thr106Pro
LRG_15:g.72184A>C
LRG_15t1:c.316A>C
LRG_15p1:p.Thr106Pro

About this variant

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

Variant displays