Original source

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

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

Chromosome 8:99511275 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041273

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15255

This variation has 11 HGVS names - click the plus to show

8:g.99511275G>T
ENST00000496144.4:c.*254G>T
ENST00000358544.5:c.4471G>T
ENSP00000351346.2:p.Glu1491Ter
ENST00000357162.5:c.4396G>T
ENSP00000349685.2:p.Glu1466Ter
LRG_351:g.503010G>T
LRG_351t2:c.4396G>T
LRG_351p2:p.Glu1466Ter
LRG_351t1:c.4471G>T
LRG_351p1:p.Glu1491Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variation displays