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

Co-located

with HGMD-PUBLIC CD062227, CM012466

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11374, 2010_April_001_296_SDHD_602690_0007

This variation has 16 HGVS names - click the plus to show

11:g.112094831A>G
ENST00000528182.4:c.334A>G
ENSP00000435475.1:p.Met112Val
ENST00000532699.1:c.314+5820A>G
ENST00000525987.4:n.319+5820A>G
ENST00000534010.1:c.145+5820A>G
ENST00000526592.4:c.*39A>G
ENST00000375549.6:c.341A>G
ENSP00000364699.3:p.Tyr114Cys
ENST00000528021.4:c.314+5820A>G
ENST00000525291.4:c.224A>G
ENSP00000436669.1:p.Tyr75Cys
ENST00000530923.4:c.*80A>G
ENST00000531744.4:c.314+5820A>G
ENST00000528048.4:c.196A>G
ENSP00000436217.1:p.Met66Val

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variation displays