Original source

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

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

Chromosome 11:112087933 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021678

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11390, 2010_April_001_304_SDHD_602690_0023

This variant has 21 HGVS names - click the plus to show

11:g.112087933G>A
ENST00000528182.5:c.129G>A
ENSP00000435475.1:p.Trp43Ter
ENST00000525987.5:n.134G>A
ENST00000526592.5:c.129G>A
ENSP00000432005.1:p.Trp43Ter
ENST00000614349.4:c.129G>A
ENSP00000480666.1:p.Trp43Ter
ENST00000532699.1:c.129G>A
ENSP00000456434.1:p.Trp43Ter
ENST00000375549.7:c.129G>A
ENSP00000364699.3:p.Trp43Ter
ENST00000528021.5:c.129G>A
ENSP00000432465.1:p.Trp43Ter
ENST00000525291.5:c.53-934G>A
ENST00000530923.5:c.119G>A
ENSP00000432946.1:p.Trp40Ter
ENST00000531744.5:c.129G>A
ENSP00000456957.1:p.Trp43Ter
ENST00000528048.5:c.129G>A
ENSP00000436217.1:p.Trp43Ter

About this variant

This variant overlaps 21 transcripts and is associated with 2 phenotypes.

Variant displays