CH25H cholesterol 25-hydroxylase

Canonical transcript: NM_003956

16 unique variant annotations were identified in 10 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-90965708-G-T c.*523C>A - 3-UTRSNV 1/1 - 1
10-90965827-T-G c.*404A>C - 3-UTRSNV 1/1 - 1
10-90966308-A-C c.742T>G p.Cys248Gly Missense 1/1 - 1
10-90966334-T-G c.716A>C p.His239Pro Missense 1/1 - 1
10-90966393-G-A c.657C>T p.Asn219Asn Synonymous 1/1 - 2
10-90966460-G-T c.590C>A p.Pro197Gln Missense 1/1 - 1
10-90966482-C-T c.568G>A p.Val190Ile Missense 1/1 - 1
10-90966546-C-A c.504G>T p.Ala168Ala Synonymous 1/1 - 2
10-90966546-C-G c.504G>C p.Ala168Ala Synonymous 1/1 - 2
10-90966546-C-T c.504G>A p.Ala168Ala Synonymous 1/1 - 2
10-90966806-G-A c.244C>T p.Gln82* Nonsense 1/1 - 1
10-90966828-G-A c.222C>T p.His74His Synonymous 1/1 - 1
10-90966909-TGT-GAC c.139_141delinsGTC p.Thr47Val Missense 1/1 - 1
10-90966955-GC-TG c.94_95delinsCA p.Ala32His Missense 1/1 - 1
10-90966996-C-G c.54G>C p.Leu18Leu Synonymous 1/1 - 2
10-90966999-C-G c.51G>C p.Gln17His Missense 1/1 - 1