PMCH pro-melanin concentrating hormone

Canonical transcript: NM_002674

61 unique variant annotations were identified in 54 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-102590453-A-C c.475T>G p.Tyr159Asp Missense 3/3 - 1
12-102590458-C-T c.470G>A p.Arg157Lys Missense 3/3 - 1
12-102590470-C-A c.458G>T p.Cys153Phe Missense 3/3 - 1
12-102590470-C-T c.458G>A p.Cys153Tyr Missense 3/3 - 1
12-102590473-C-A c.455G>T p.Arg152Ile Missense 3/3 - 1
12-102590770-T-A c.429A>T p.Ile143Ile Synonymous 2/3 - 2
12-102590804-A-G c.395T>C p.Ile132Thr Missense 2/3 - 1
12-102590816-T-C c.383A>G p.Glu128Gly Missense 2/3 - 1
12-102590816-TC-AC c.383delinsT p.Glu128Val Missense 2/3 - 1
12-102590850-C-T c.349G>A p.Glu117Lys Missense 2/3 - 1
12-102590858-A-T c.341T>A p.Phe114Tyr Missense 2/3 - 1
12-102590861-G-A c.338C>T p.Ala113Val Missense 2/3 - 1
12-102590873-T-C c.326A>G p.Lys109Arg Missense 2/3 - 1
12-102590880-C-T c.319G>A p.Ala107Thr Missense 2/3 - 1
12-102590890-T-A c.309A>T p.Lys103Asn Missense 2/3 - 10
12-102590890-T-G c.309A>C p.Lys103Asn Missense 2/3 - 10
12-102590892-T-G c.307A>C p.Lys103Gln Missense 2/3 - 1
12-102590899-CAG-ATC c.298_300delinsGAT p.Leu100Asp Missense 2/3 - 2
12-102590910-G-C c.289C>G p.Pro97Ala Missense 2/3 - 1
12-102590917-A-G c.282T>C p.His94His Synonymous 2/3 - 1
12-102590943-C-G c.256G>C p.Gly86Arg Missense 2/3 - 1
12-102591269-G-T c.249+31C>A - IntronicSNV - 1/2 1
12-102591323-C-G c.226G>C p.Glu76Gln Missense 1/3 - 2
12-102591323-C-T c.226G>A p.Glu76Lys Missense 1/3 - 1
12-102591332-A-AT c.216_217insA p.Phe73Ilefs*8 Frameshift 1/3 - 2
12-102591332-A-G c.217T>C p.Phe73Leu Missense 1/3 - 1
12-102591357-T-A c.192A>T p.Glu64Asp Missense 1/3 - 1
12-102591357-T-G c.192A>C p.Glu64Asp Missense 1/3 - 1
12-102591383-T-C c.166A>G p.Lys56Glu Missense 1/3 - 1
12-102591388-G-A c.161C>T p.Ala54Val Missense 1/3 - 1
12-102591394-TC-TG c.154delinsC p.Asp52His Missense 1/3 - 1
12-102591415-CC-TA c.133_134delinsTA p.Gly45* Nonsense 1/3 - 1
12-102591420-ACCTG-A c.126_129del p.Arg43Trpfs*31 Frameshift 1/3 - 1
12-102591428-T-C c.121A>G p.Thr41Ala Missense 1/3 - 1
12-102591432-AAA-GAG c.115_117delinsCTC p.Phe39Leu Missense 1/3 - 1
12-102591435-TAC-ATG c.112_114delinsCAT p.Val38His Missense 1/3 - 1
12-102591436-A-G c.113T>C p.Val38Ala Missense 1/3 - 1
12-102591450-T-A c.99A>T p.Leu33Phe Missense 1/3 - 1
12-102591450-T-G c.99A>C p.Leu33Phe Missense 1/3 - 1
12-102591454-T-C c.95A>G p.Asn32Ser Missense 1/3 - 1
12-102591461-T-C c.88A>G p.Ile30Val Missense 1/3 - 1
12-102591464-A-AG c.84_85insC p.Ser29Leufs*7 Frameshift 1/3 - 2
12-102591465-C-G c.84G>C p.Lys28Asn Missense 1/3 - 1
12-102591470-A-C c.79T>G p.Ser27Ala Missense 1/3 - 1
12-102591471-TGC-TGT c.76delinsA p.Ala26Thr Missense 1/3 - 1
12-102591474-TGA-GAC c.73_75delinsGTC p.Ser25Val Missense 1/3 - 1
12-102591474-TG-TT c.74delinsA p.Ser25* Missense 1/3 - 1
12-102591476-A-C c.73T>G p.Ser25Ala Missense 1/3 - 1
12-102591488-C-G c.61G>C p.Gly21Arg Missense 1/3 - 1
12-102591490-T-C c.59A>G p.Gln20Arg Missense 1/3 - 1
12-102591499-AA-CC c.49_50delinsGG p.Leu17Gly Missense 1/3 - 2
12-102591502-G-C c.47C>G p.Ser16Cys Missense 1/3 - 1
12-102591503-A-AC c.45_46insG p.Ser16Valfs*20 Frameshift 1/3 - 1
12-102591503-A-C c.46T>G p.Ser16Ala Missense 1/3 - 1
12-102591505-AA-GC c.43_44delinsGC p.Phe15Ala Missense 1/3 - 2
12-102591505-A-C c.44T>G p.Phe15Cys Missense 1/3 - 2
12-102591507-AA-A c.46del p.Ser16Leufs*15 Frameshift 1/3 - 1
12-102591511-AG-GC c.37_38delinsGC p.Leu13Ala Missense 1/3 - 1
12-102591521-T-TC c.27_28insG p.Ile10Aspfs*26 Frameshift 1/3 - 2
12-102591545-C-T c.4G>A p.Ala2Thr Missense 1/3 - 1
12-102591547-A-G c.2T>C p.Met1? Missense 1/3 - 1