Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 15:25371725 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041096

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_051_UBE3A_601623_0007, 10353

This variant has 27 HGVS names - click the plus to show

15:g.25371725A>G
ENST00000628733.2:c.449T>C
ENSP00000486388.1:p.Ile150Thr
ENST00000453082.5:n.4133-1797A>G
ENST00000554726.1:n.246-19871A>G
ENST00000626793.2:n.500T>C
ENST00000232165.7:c.389T>C
ENSP00000232165.5:p.Ile130Thr
ENST00000626068.2:c.470T>C
ENSP00000487534.1:p.Ile157Thr
ENST00000566215.5:c.389T>C
ENSP00000457771.1:p.Ile130Thr
ENST00000397954.6:c.458T>C
ENSP00000381045.2:p.Ile153Thr
ENST00000614096.4:c.449T>C
ENSP00000481796.1:p.Ile150Thr
ENST00000625778.2:c.389T>C
ENSP00000487217.1:p.Ile130Thr
ENST00000438097.5:c.389T>C
ENSP00000411258.1:p.Ile130Thr
ENST00000428984.6:c.389T>C
ENSP00000401265.2:p.Ile130Thr
ENST00000630424.2:c.389T>C
ENSP00000486349.1:p.Ile130Thr
LRG_15:g.72257T>C
LRG_15t1:c.389T>C
LRG_15p1:p.Ile130Thr

About this variant

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

Variant displays