Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 11:112087916 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM000206

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11369, 2010_April_001_292_SDHD_602690_0002, NM_003002.1:c.112C>T

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

11:g.112087916C>T
ENST00000528182.5:c.112C>T
ENSP00000435475.1:p.Arg38Ter
ENST00000525987.5:n.117C>T
ENST00000526592.5:c.112C>T
ENSP00000432005.1:p.Arg38Ter
ENST00000532699.1:c.112C>T
ENSP00000456434.1:p.Arg38Ter
ENST00000614349.4:c.112C>T
ENSP00000480666.1:p.Arg38Ter
ENST00000375549.7:c.112C>T
ENSP00000364699.3:p.Arg38Ter
ENST00000528021.5:c.112C>T
ENSP00000432465.1:p.Arg38Ter
ENST00000525291.5:c.53-951C>T
ENST00000531744.5:c.112C>T
ENSP00000456957.1:p.Arg38Ter
ENST00000530923.5:c.102C>T
ENSP00000432946.1:p.Arg35Ter
ENST00000528048.5:c.112C>T
ENSP00000436217.1:p.Arg38Ter

About this variant

This variant overlaps 21 transcripts, is associated with 4 phenotypes and is mentioned in 4 citations.

Variant displays