PEG3 paternally expressed 3

Canonical transcript: NM_001146184

44 unique variant annotations were identified in 50 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-57322574-G-A c.*2469C>T - 3-UTRSNV 9/9 - 1
19-57322755-T-C c.*2288A>G - 3-UTRSNV 9/9 - 1
19-57323016-C-G c.*2027G>C - 3-UTRSNV 9/9 - 3
19-57323016-C-T c.*2027G>A - 3-UTRSNV 9/9 - 3
19-57323275-A-G c.*1768T>C - 3-UTRSNV 9/9 - 1
19-57323357-G-C c.*1686C>G - 3-UTRSNV 9/9 - 1
19-57323607-G-A c.*1436C>T - 3-UTRSNV 9/9 - 3
19-57323867-G-C c.*1176C>G - 3-UTRSNV 9/9 - 1
19-57324340-C-G c.*703G>C - 3-UTRSNV 9/9 - 7
19-57324340-C-T c.*703G>A - 3-UTRSNV 9/9 - 7
19-57325050-G-C c.4760C>G p.Thr1587Ser Missense 9/9 - 1
19-57325051-T-A c.4759A>T p.Thr1587Ser Missense 9/9 - 1
19-57325072-C-A c.4738G>T p.Ala1580Ser Missense 9/9 - 1
19-57325072-C-T c.4738G>A p.Ala1580Thr Missense 9/9 - 1
19-57325083-C-A c.4727G>T p.Arg1576Leu Missense 9/9 - 1
19-57325083-C-T c.4727G>A p.Arg1576His Missense 9/9 - 1
19-57325545-G-C c.4265C>G p.Ala1422Gly Missense 9/9 - 3
19-57326272-C-A c.3538G>T p.Glu1180* Nonsense 9/9 - 1
19-57326479-C-A c.3331G>T p.Asp1111Tyr Missense 9/9 - 1
19-57326721-C-T c.3089G>A p.Arg1030Gln Missense 9/9 - 1
19-57327070-C-T c.2740G>A p.Gly914Ser Missense 9/9 - 1
19-57327318-CT-CC c.2491delinsG p.Ser831Gly Missense 9/9 - 1
19-57327331-C-T c.2479G>A p.Gly827Arg Missense 9/9 - 1
19-57327420-C-A c.2390G>T p.Ser797Ile Missense 9/9 - 1
19-57327503-A-G c.2307T>C p.Tyr769Tyr Synonymous 9/9 - 1
19-57327718-A-C c.2092T>G p.Ser698Ala Missense 9/9 - 1
19-57327997-C-G c.1813G>C p.Gly605Arg Missense 9/9 - 1
19-57327997-C-T c.1813G>A p.Gly605Arg Missense 9/9 - 1
19-57328254-G-A c.1556C>T p.Ala519Val Missense 9/9 - 1
19-57330037-C-T c.703G>A p.Ala235Thr Missense 7/9 - 2
19-57334156-C-T c.530G>A p.Arg177Gln Missense 5/9 - 1
19-57334187-G-A c.499C>T p.Arg167Trp Missense 5/9 - 1
19-57334629-G-A c.481+332C>T - IntronicSNV - 4/8 1
19-57334956-A-C c.481+5T>G - IntronicSNV - 4/8 1
19-57335022-G-A c.420C>T p.Ser140Ser Synonymous 4/9 - 6
19-57335935-TC-AC c.89delinsT p.Glu30Val Missense 3/9 - 1
19-57335981-A-C c.43T>G p.Ser15Ala Missense 3/9 - 1
19-57335986-TT-GC c.37_38delinsGC p.Lys13Ala Missense 3/9 - 1
19-57337658-C-T c.-86-1549G>A - IntronicSNV - 2/8 1
19-57349732-C-G c.-174+2218G>C - intron_variant - 1/8 1
19-57350197-A-C c.-174+1753T>G - intron_variant - 1/8 3
19-57350197-A-G c.-174+1753T>C - intron_variant - 1/8 3
19-57351579-C-T c.-174+371G>A - intron_variant - 1/8 1
19-57352051-C-T c.-275G>A - 5_prime_UTR_variant 1/9 - 4