COX4I2

COX4I2 cytochrome c oxidase subunit 4I2

Annotation transcript: NM_032609.3

167 unique variant annotations were identified in 127 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
20-30226690-G-A c.1-131G>A - IntronicSNV - 1/4 3
20-30226764-G-C c.1-57G>C - IntronicSNV - 1/4 3
20-30226821-A-G c.1A>G p.M1? Missense 2/5 - 1
20-30226826-C-A c.6C>A p.L2= Synonymous 2/5 - 1
20-30226827-C-A c.7C>A p.P3T Missense 2/5 - 1
20-30226830-A-C c.10A>C p.R4= Synonymous 2/5 - 1
20-30226831-G-C c.11G>C p.R4T Missense 2/5 - 1
20-30226831-G-T c.11G>T p.R4I Missense 2/5 - 1
20-30226840-G-A c.20G>A p.W7* Nonsense 2/5 - 1
20-30226841-G-A c.21G>A p.W7* Nonsense 2/5 - 4
20-30226843-G-A c.23G>A p.S8N Missense 2/5 - 2
20-30226844-C-T c.24C>T p.S8= Synonymous 2/5 - 1
20-30226864-G-A c.44G>A p.G15E Missense 2/5 - 2
20-30226873-G-C c.53G>C p.R18T Missense 2/5 - 1
20-30226875-CGA-TGT c.55_57delinsTGT p.R19C Missense 2/5 - 2
20-30226875-C-T c.55C>T p.R19* Nonsense 2/5 - 1
20-30226876-G-A c.56G>A p.R19Q Missense 2/5 - 1
20-30226876-GA-AT c.56_57delinsAT p.R19H Missense 2/5 - 2
20-30226890-T-G c.70T>G p.S24A Missense 2/5 - 1
20-30226891-C-A c.71C>A p.S24* Nonsense 2/5 - 1
20-30226891-CA-TT c.71_72delinsTT p.S24F Missense 2/5 - 1
20-30226891-C-G c.71C>G p.S24* Nonsense 2/5 - 1
20-30226904-T-G c.82+2T>G - IntronicSNV - 2/4 1
20-30226925-C-G c.82+23C>G - IntronicSNV - 2/4 1
20-30227639-A-G c.83-97A>G - IntronicSNV - 2/4 3
20-30227734-A-G c.83-2A>G - IntronicSNV - 2/4 1
20-30227739-G-A c.86G>A p.R29H Missense 3/5 - 2
20-30227741-G-C c.88G>C p.G30R Missense 3/5 - 1
20-30227742-G-A c.89G>A p.G30D Missense 3/5 - 1
20-30227743-T-C c.90T>C p.G30= Synonymous 3/5 - 1
20-30227745-G-A c.92G>A p.G31E Missense 3/5 - 1
20-30227743-T-TG c.96dup p.K33Efs*28 Frameshift 3/5 - 1
20-30227749-G-A c.96G>A p.G32= Synonymous 3/5 - 2
20-30227749-G-C c.96G>C p.G32= Synonymous 3/5 - 1
20-30227749-G-T c.96G>T p.G32= Synonymous 3/5 - 1
20-30227752-G-A c.99G>A p.K33= Synonymous 3/5 - 1
20-30227782-G-A c.129G>A p.Q43= Synonymous 3/5 - 1
20-30227784-G-A c.131G>A p.R44H Missense 3/5 - 1
20-30227794-C-T c.141C>T p.P47= Synonymous 3/5 - 1
20-30227798-C-A c.145C>A p.P49T Missense 3/5 - 1
20-30227798-C-T c.145C>T p.P49S Missense 3/5 - 1
20-30227809-C-A c.156C>A p.P52= Synonymous 3/5 - 2
20-30227810-T-C c.157T>C p.F53L Missense 3/5 - 1
20-30227812-C-A c.159C>A p.F53L Missense 3/5 - 1
20-30227812-C-G c.159C>G p.F53L Missense 3/5 - 1
20-30227819-G-A c.166G>A p.E56K Missense 3/5 - 2
20-30227819-GAACTC-G c.170_174del p.L57Rfs*2 Frameshift 3/5 - 1
20-30227827-C-T c.174C>T p.N58= Synonymous 3/5 - 1
20-30227828-G-A c.175G>A p.A59T Missense 3/5 - 3
20-30227829-C-T c.176C>T p.A59V Missense 3/5 - 1
20-30227830-CT-C c.177del p.E60Rfs*5 Frameshift 3/5 - 1
20-30227834-G-A c.181G>A p.E61K Missense 3/5 - 1
20-30227837-C-A c.184C>A p.Q62K Missense 3/5 - 1
20-30227837-C-T c.184C>T p.Q62* Nonsense 3/5 - 1
20-30227841-C-T c.188C>T p.A63V Missense 3/5 - 1
20-30227844-CT-C c.191del p.L64Rfs*12 Frameshift 3/5 - 1
20-30227846-A-G c.193A>G p.K65E Missense 3/5 - 1
20-30227849-G-T c.196G>T p.E66* Nonsense 3/5 - 1
20-30227851-G-C c.198G>C p.E66D Missense 3/5 - 1
20-30227851-G-T c.198G>T p.E66D Missense 3/5 - 1
20-30227854-G-A c.201G>A p.K67= Synonymous 3/5 - 1
20-30227855-G-A c.202G>A p.E68K Missense 3/5 - 2
20-30227856-AGAAGGGAAGCTGGACCCAGCTGACCCACGCCGAAAAGGT-A c.205_243del p.K69_V81del InFrameDeletion 3/5 - 2
20-30227861-G-A c.208G>A p.G70R Missense 3/5 - 7
20-30227861-G-C c.208G>C p.G70R Missense 3/5 - 2
20-30227862-G-A c.209G>A p.G70E Missense 3/5 - 3
20-30227864-AGC-TGA c.211_213delinsTGA p.S71* Nonsense 3/5 - 1
20-30227868-G-A c.215G>A p.W72* Nonsense 3/5 - 1
20-30227869-G-T c.216G>T p.W72C Missense 3/5 - 1
20-30227870-A-C c.217A>C p.T73P Missense 3/5 - 1
20-30227876-C-T c.223C>T p.L75= Synonymous 3/5 - 1
20-30227886-C-T c.233C>T p.A78V Missense 3/5 - 2
20-30227887-C-T c.234C>T p.A78= Synonymous 3/5 - 1
20-30227888-G-A c.235G>A p.E79K Missense 3/5 - 2
20-30227891-A-C c.238A>C p.K80Q Missense 3/5 - 1
20-30227891-A-G c.238A>G p.K80E Missense 3/5 - 1
20-30227892-A-G c.239A>G p.K80R Missense 3/5 - 6
20-30227894-G-A c.241G>A p.V81M Missense 3/5 - 2
20-30227900-T-A c.247T>A p.L83M Missense 3/5 - 2
20-30227901-G-A c.247+1G>A - IntronicSNV - 3/4 2
20-30229504-CTT-C c.247+1614_247+1615del - IntronicDeletion - 3/4 1
20-30231200-CCTCCAGTGTACCGG-C c.249_262del p.L83Ffs*3 SpliceAcceptorDeletion 4/5 - 1
20-30231212-C-A c.253C>A p.R85= Synonymous 4/5 - 1
20-30231212-C-T c.253C>T p.R85W Missense 4/5 - 2
20-30231214-G-A c.255G>A p.R85= Synonymous 4/5 - 1
20-30231214-G-C c.255G>C p.R85= Synonymous 4/5 - 1
20-30231214-G-T c.255G>T p.R85= Synonymous 4/5 - 1
20-30231213-G-A c.254G>A p.R85Q Missense 4/5 - 1
20-30231226-T-A c.267T>A p.N89K Missense 4/5 - 1
20-30231226-T-G c.267T>G p.N89K Missense 4/5 - 1
20-30231237-C-T c.278C>T p.A93V Missense 4/5 - 1
20-30231238-G-A c.279G>A p.A93= Synonymous 4/5 - 1
20-30231238-G-C c.279G>C p.A93= Synonymous 4/5 - 1
20-30231238-G-T c.279G>T p.A93= Synonymous 4/5 - 1
20-30231244-G-A c.285G>A p.M95I Missense 4/5 - 1
20-30231244-G-C c.285G>C p.M95I Missense 4/5 - 1
20-30231244-G-T c.285G>T p.M95I Missense 4/5 - 1
20-30231248-CGT-TGA c.289_291delinsTGA p.R97* Nonsense 4/5 - 1
20-30231248-C-T c.289C>T p.R97C Missense 4/5 - 1
20-30231249-G-C c.290G>C p.R97P Missense 4/5 - 1
20-30231251-CGC-TGG c.292_294delinsTGG p.R98W Missense 4/5 - 1
20-30231252-G-A c.293G>A p.R98H Missense 4/5 - 5
20-30231264-G-A c.305G>A p.W102* Nonsense 4/5 - 2
20-30231265-G-A c.306G>A p.W102* Nonsense 4/5 - 1
20-30231267-A-G c.308A>G p.K103R Missense 4/5 - 1
20-30231268-AG-A c.309del p.T104Qfs*2 Frameshift 4/5 - 1
20-30231277-G-T c.318G>T p.M106I Missense 4/5 - 1
20-30231290-T-C c.331T>C p.F111L Missense 4/5 - 1
20-30231292-C-A c.333C>A p.F111L Missense 4/5 - 1
20-30231292-C-G c.333C>G p.F111L Missense 4/5 - 1
20-30231297-T-A c.338T>A p.I113N Missense 4/5 - 1
20-30231297-T-C c.338T>C p.I113T Missense 4/5 - 1
20-30231298-T-A c.339T>A p.I113= Synonymous 4/5 - 2
20-30231298-T-C c.339T>C p.I113= Synonymous 4/5 - 2
20-30231299-G-T c.340G>T p.G114* Nonsense 4/5 - 1
20-30231300-G-A c.341G>A p.G114E Missense 4/5 - 4
20-30231301-A-T c.342A>T p.G114= Synonymous 4/5 - 1
20-30231304-C-T c.345C>T p.F115= Synonymous 4/5 - 1
20-30231305-G-A c.346G>A p.A116T Missense 4/5 - 3
20-30231313-G-A c.354G>A p.L118= Synonymous 4/5 - 1
20-30231314-G-A c.355G>A p.V119M Missense 4/5 - 5
20-30231315-T-C c.356T>C p.V119A Missense 4/5 - 1
20-30231320-T-C c.361T>C p.W121R Missense 4/5 - 1
20-30231332-G-A c.373G>A p.V125I Missense 4/5 - 1
20-30232452-C-T c.380-119C>T - IntronicSNV - 4/4 2
20-30232504-G-A c.380-67G>A - IntronicSNV - 4/4 3
20-30232569-A-G c.380-2A>G - IntronicSNV - 4/4 1
20-30232574-T-C c.383T>C p.F128S Missense 5/5 - 1
20-30232578-T-A c.387T>A p.P129= Synonymous 5/5 - 1
20-30232578-T-C c.387T>C p.P129= Synonymous 5/5 - 1
20-30232578-T-G c.387T>G p.P129= Synonymous 5/5 - 1
20-30232581-A-G c.390A>G p.P130= Synonymous 5/5 - 1
20-30232585-C-G c.394C>G p.P132A Missense 5/5 - 1
20-30232586-C-A c.395C>A p.P132Q Missense 5/5 - 1
20-30232586-C-T c.395C>T p.P132L Missense 5/5 - 1
20-30232592-C-A c.401C>A p.T134N Missense 5/5 - 2
20-30232592-C-T c.401C>T p.T134I Missense 5/5 - 2
20-30232594-T-A c.403T>A p.L135M Missense 5/5 - 2
20-30232598-C-T c.407C>T p.T136M Missense 5/5 - 1
20-30232600-G-A c.409G>A p.D137N Missense 5/5 - 2
20-30232603-G-A c.412G>A p.E138K Missense 5/5 - 11
20-30232606-C-T c.415C>T p.R139W Missense 5/5 - 1
20-30232608-G-C c.417G>C p.R139= Synonymous 5/5 - 1
20-30232612-GC-G c.424del p.Q142Sfs*9 Frameshift 5/5 - 1
20-30232628-G-A c.437G>A p.R146H Missense 5/5 - 4
20-30232640-T-C c.449T>C p.M150T Missense 5/5 - 1
20-30232646-T-A c.455T>A p.V152E Missense 5/5 - 2
20-30232649-A-G c.458A>G p.N153S Missense 5/5 - 1
20-30232652-C-A c.461C>A p.P154H Missense 5/5 - 1
20-30232652-C-T c.461C>T p.P154L Missense 5/5 - 1
20-30232653-T-A c.462T>A p.P154= Synonymous 5/5 - 1
20-30232653-T-C c.462T>C p.P154= Synonymous 5/5 - 1
20-30232653-T-G c.462T>G p.P154= Synonymous 5/5 - 1
20-30232655-T-C c.464T>C p.V155A Missense 5/5 - 2
20-30232661-G-T c.470G>T p.G157V Missense 5/5 - 1
20-30232668-C-A c.477C>A p.A159= Synonymous 5/5 - 2
20-30232670-C-T c.479C>T p.S160F Missense 5/5 - 1
20-30232672-CGC-TGG c.481_483delinsTGG p.R161W Missense 5/5 - 1
20-30232672-C-T c.481C>T p.R161C Missense 5/5 - 1
20-30232673-G-A c.482G>A p.R161H Missense 5/5 - 17
20-30232673-GC-AA c.482_483delinsAA p.R161Q Missense 5/5 - 1
20-30232674-C-A c.483C>A p.R161= Synonymous 5/5 - 2
20-30232681-T-A c.490T>A p.Y164N Missense 5/5 - 1
20-30232684-G-A c.493G>A p.E165K Missense 5/5 - 1
20-30232693-C-A c.502C>A p.Q168K Missense 5/5 - 1
20-30232693-C-T c.502C>T p.Q168* Nonsense 5/5 - 1
20-30232694-A-T c.503A>T p.Q168L Missense 5/5 - 1