Original source

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

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

Chromosome 11:112094906 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013285

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003002.1:c.416T>C, 2010_April_001_301_SDHD_602690_0016, 11383

This variant has 14 HGVS names - click the plus to show

11:g.112094906T>C
ENST00000528182.5:c.*13T>C
ENST00000532699.1:c.314+5895T>C
ENST00000525987.5:n.319+5895T>C
ENST00000534010.1:c.145+5895T>C
ENST00000526592.5:c.*114T>C
ENST00000375549.7:c.416T>C
ENSP00000364699.3:p.Leu139Pro
ENST00000525291.5:c.299T>C
ENSP00000436669.1:p.Leu100Pro
ENST00000528021.5:c.314+5895T>C
ENST00000531744.5:c.314+5895T>C
ENST00000530923.5:c.*155T>C
ENST00000528048.5:c.*13T>C

About this variant

This variant overlaps 12 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays