Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 11:112094831 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CD062227, CM012466

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11374, 2010_April_001_296_SDHD_602690_0007

HGVS names

This variant has 16 HGVS names - Hide

11:g.112094831A>G
ENST00000532699.1:c.314+5820A>G
ENST00000528182.5:c.334A>G
ENSP00000435475.1:p.Met112Val
ENST00000525987.5:n.319+5820A>G
ENST00000534010.1:c.145+5820A>G
ENST00000526592.5:c.*39A>G
ENST00000375549.7:c.341A>G
ENSP00000364699.3:p.Tyr114Cys
ENST00000525291.5:c.224A>G
ENSP00000436669.1:p.Tyr75Cys
ENST00000528021.5:c.314+5820A>G
ENST00000531744.5:c.314+5820A>G
ENST00000530923.5:c.*80A>G
ENST00000528048.5:c.196A>G
ENSP00000436217.1:p.Met66Val

About this variant

This variant overlaps 12 transcripts and is associated with 3 phenotypes.

Variant displays