Original source

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

Alleles
A/G/T|Ancestral: A|Ambiguity code: D
Location

Chromosome 11:112089002 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM119134, CM094775, CM000209

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_295_SDHD_602690_0005, 11372

HGVS names

This variant has 46 HGVS names - Hide

Variant allele T
11:g.112089002A>T
ENST00000528182.5:c.305A>T
ENSP00000435475.1:p.His102Leu
ENST00000525987.5:n.310A>T
ENST00000534010.1:c.136A>T
ENSP00000433202.1:p.His46Leu
ENST00000526592.5:c.305A>T
ENSP00000432005.1:p.His102Leu
ENST00000614349.4:c.305A>T
ENSP00000480666.1:p.His102Leu
ENST00000532699.1:c.305A>T
ENSP00000456434.1:p.His102Leu
ENST00000375549.7:c.305A>T
ENSP00000364699.3:p.His102Leu
ENST00000528021.5:c.305A>T
ENSP00000432465.1:p.His102Leu
ENST00000525291.5:c.188A>T
ENSP00000436669.1:p.His63Leu
ENST00000531744.5:c.305A>T
ENSP00000456957.1:p.His102Leu
ENST00000530923.5:c.295A>T
ENSP00000432946.1:p.His99Leu
ENST00000528048.5:c.169+1029A>T

Variant allele G
11:g.112089002A>G
ENST00000528182.5:c.305A>G
ENSP00000435475.1:p.His102Arg
ENST00000525987.5:n.310A>G
ENST00000534010.1:c.136A>G
ENSP00000433202.1:p.His46Arg
ENST00000526592.5:c.305A>G
ENSP00000432005.1:p.His102Arg
ENST00000614349.4:c.305A>G
ENSP00000480666.1:p.His102Arg
ENST00000532699.1:c.305A>G
ENSP00000456434.1:p.His102Arg
ENST00000375549.7:c.305A>G
ENSP00000364699.3:p.His102Arg
ENST00000528021.5:c.305A>G
ENSP00000432465.1:p.His102Arg
ENST00000525291.5:c.188A>G
ENSP00000436669.1:p.His63Arg
ENST00000531744.5:c.305A>G
ENSP00000456957.1:p.His102Arg
ENST00000530923.5:c.295A>G
ENSP00000432946.1:p.His99Arg
ENST00000528048.5:c.169+1029A>G

About this variant

This variant overlaps 40 transcripts and is associated with 2 phenotypes.

Variant displays