Original source

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

Alleles
T/C/G|Ancestral: T|Ambiguity code: B
Location

Chromosome 1:17028628 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM040488

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_247_SDHB_185470_0010, 5504

HGVS names

This variant has 24 HGVS names - Hide

Variant allele C
1:g.17028628T>C
ENST00000475506.1:n.312A>G
ENST00000491274.5:c.353A>G
ENSP00000480482.1:p.His118Arg
ENST00000485515.5:n.357+26A>G
ENST00000375499.7:c.395A>G
ENSP00000364649.3:p.His132Arg
ENST00000463045.2:c.224A>G
ENSP00000481376.1:p.His75Arg
LRG_316:g.30543A>G
LRG_316t1:c.395A>G
LRG_316p1:p.His132Arg

Variant allele G
1:g.17028628T>G
ENST00000475506.1:n.312A>C
ENST00000491274.5:c.353A>C
ENSP00000480482.1:p.His118Pro
ENST00000485515.5:n.357+26A>C
ENST00000375499.7:c.395A>C
ENSP00000364649.3:p.His132Pro
ENST00000463045.2:c.224A>C
ENSP00000481376.1:p.His75Pro
LRG_316:g.30543A>C
LRG_316t1:c.395A>C
LRG_316p1:p.His132Pro

About this variant

This variant overlaps 14 transcripts and is associated with 2 phenotypes.

Variant displays