Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 11:112086910 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM092619, CM013281

Most severe consequence
 
Start lost
Evidence status

Clinical significance

Synonyms

LSDB 11382, 2010_April_001_300_SDHD_602690_0015, NM_003002.1:c.3G>C

This variant has 20 HGVS names - click the plus to show

11:g.112086910G>C
ENST00000528182.5:c.3G>C
ENSP00000435475.1:p.Met1?
ENST00000525987.5:n.8G>C
ENST00000526592.5:c.3G>C
ENSP00000432005.1:p.Met1?
ENST00000614349.4:c.3G>C
ENSP00000480666.1:p.Met1?
ENST00000532699.1:c.3G>C
ENSP00000456434.1:p.Met1?
ENST00000375549.7:c.3G>C
ENSP00000364699.3:p.Met1?
ENST00000528021.5:c.3G>C
ENSP00000432465.1:p.Met1?
ENST00000525291.5:c.3G>C
ENSP00000436669.1:p.Met1?
ENST00000531744.5:c.3G>C
ENSP00000456957.1:p.Met1?
ENST00000528048.5:c.3G>C
ENSP00000436217.1:p.Met1?

About this variant

This variant overlaps 24 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays