Original source

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

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

Chromosome 1:17024025 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012801

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB SDHB_590C_G_110910, 2009_August_001_242_SDHB_185470_0002, 5496

HGVS names

This variant has 9 HGVS names - Hide

1:g.17024025G>C
ENST00000491274.5:c.548C>G
ENSP00000480482.1:p.Pro183Arg
ENST00000485515.5:n.524C>G
ENST00000375499.7:c.590C>G
ENSP00000364649.3:p.Pro197Arg
LRG_316:g.35146C>G
LRG_316t1:c.590C>G
LRG_316p1:p.Pro197Arg

About this variant

This variant overlaps 8 transcripts, is associated with 3 phenotypes and is mentioned in 6 citations.

Variant displays