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Results for "EFR3A"

Variant Events: 86

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
EFR3A     1-0290-003chr8:
133027973-133027973		TCintergenicDe novo--Yuen2017 G
EFR3A     PN400132chr8:
132997219-132997219		GAexonicUnknownnonsynonymous SNVNM_015137c.G1781Ap.R594H34.08.26E-6Leblond2019 E
EFR3A     2-1117-003chr8:
132916311-132916311		GCupstreamDe novo--Yuen2016 G
EFR3A     ASC_CA_189_Achr8:
133023108-133023108		AGexonicDe novononsynonymous SNVNM_015137c.A2432Gp.Y811C23.8-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
EFR3A     UK10K_SKUSE5080218chr8:
132952779-132952779		GAexonicDe novononsynonymous SNVNM_015137c.G44Ap.R15H35.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
EFR3A     11428.p1chr8:
132957010-132957010		GAexonicUnknownnonsynonymous SNVNM_015137c.G106Ap.D36N11.45.223E-5Gupta2014 T
EFR3A     12093.p1chr8:
132957112-132957112		CTexonicUnknownnonsynonymous SNVNM_015137c.C208Tp.R70C23.3-Gupta2014 T
EFR3A     12610.p1chr8:
132958867-132958867		TCexonicUnknownnonsynonymous SNVNM_015137c.T353Cp.L118P19.02-Gupta2014 T
EFR3A     11393.p1chr8:
132966167-132966167		TGexonicUnknownnonsynonymous SNVNM_015137c.T591Gp.I197M17.920.0032Gupta2014 T
EFR3A     12681.p1chr8:
132966167-132966167		TGexonicUnknownnonsynonymous SNVNM_015137c.T591Gp.I197M17.920.0032Gupta2014 T
EFR3A     1-0484-003chr8:
133000440-133000440		AATTTCCTTCTATintronicDe novo--Yuen2017 G
EFR3A     11379_p1chr8:
132982744-132982744		TCexonicDe novononsynonymous SNVNM_015137c.T1013Cp.F338S26.4-Fu2022 E
EFR3A     11572.p1chr8:
132968104-132968104		GCexonicUnknownnonsynonymous SNVNM_015137c.G728Cp.G243A24.4-Gupta2014 T
EFR3A     11379.p1chr8:
132982744-132982744		TCexonicUnknown, De novononsynonymous SNVNM_015137c.T1013Cp.F338S26.4-Gupta2014 T
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
EFR3A     11473.p1chr8:
132996411-132996411		TCexonicUnknownnonsynonymous SNVNM_015137c.T1601Cp.I534T19.393.356E-5Gupta2014 T
EFR3A     11577.p1chr8:
132996539-132996539		GI:ATTexonicUnknown--Gupta2014 T
EFR3A     11540.p1chr8:
132998444-132998444		AGexonicUnknownnonsynonymous SNVNM_015137c.A1873Gp.I625V14.090.0018Gupta2014 T
EFR3A     11808.p1chr8:
133015525-133015525		AGexonicUnknownnonsynonymous SNVNM_015137c.A2353Gp.T785A15.49-Gupta2014 T
EFR3A     11474.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11029.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11511.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11529.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11939.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11919.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11780.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11247.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11922.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     12392.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11108.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11069.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     13507.p1chr8:
132962216-132962216		TCexonicUnknownnonsynonymous SNVNM_015137c.T367Cp.F123L27.5-Gupta2014 T
EFR3A     12799.p1chr8:
132966167-132966167		TGexonicUnknownnonsynonymous SNVNM_015137c.T591Gp.I197M17.920.0032Gupta2014 T
EFR3A     13625.p1chr8:
132966167-132966167		TGexonicUnknownnonsynonymous SNVNM_015137c.T591Gp.I197M17.920.0032Gupta2014 T
EFR3A     11027.p1chr8:
132968022-132968022		GI:TCGCATAexonicUnknown--Gupta2014 T
EFR3A     13628.p1chr8:
132971850-132971850		ATexonicUnknownnonsynonymous SNVNM_015137c.A795Tp.K265N13.20.0042Gupta2014 T
EFR3A     13584.p1chr8:
132997189-132997189		TAexonicUnknownnonsynonymous SNVNM_015137c.T1751Ap.I584N10.278.425E-6Gupta2014 T
EFR3A     11187.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     11597.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     13303.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     12758.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     12790.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     12824.p1chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     1-0271-003chr8:
133000440-133000440		AATTTCCTTCTATintronicDe novo--Yuen2017 G
EFR3A     20094chr8:
132957052-132957052		AGexonicUnknownnonsynonymous SNVNM_015137c.A148Gp.K50E31.0-Gupta2014 T
EFR3A     08C74272chr8:
132966167-132966167		TGexonicUnknownnonsynonymous SNVNM_015137c.T591Gp.I197M17.920.0032Gupta2014 T
Gupta2014 T
Gupta2014 T
EFR3A     08C71783chr8:
132971850-132971850		ATexonicUnknownnonsynonymous SNVNM_015137c.A795Tp.K265N13.20.0042Gupta2014 T
EFR3A     08C73898Achr8:
132971850-132971850		ATexonicUnknownnonsynonymous SNVNM_015137c.A795Tp.K265N13.20.0042Gupta2014 T
EFR3A     00HI1409Cchr8:
132980647-132980647		GTexonicUnknownnonsynonymous SNVNM_015137c.G961Tp.A321S17.558.26E-6Gupta2014 T
EFR3A     00HI1533Achr8:
132982740-132982740		GCexonicUnknownnonsynonymous SNVNM_015137c.G1009Cp.V337L28.9-Gupta2014 T
EFR3A     06C57233chr8:
132991604-132991604		AGexonicUnknownnonsynonymous SNVNM_015137c.A1511Gp.D504G15.61-Gupta2014 T
EFR3A     07C71126chr8:
132991616-132991616		TCexonicUnknownnonsynonymous SNVNM_015137c.T1523Cp.L508P21.5-Gupta2014 T
EFR3A     AU2137304chr8:
132928194-132928194		AGintronicDe novo--Trost2022 G
Yuen2017 G
EFR3A     PN400321chr8:
132997219-132997219		GAexonicUnknownnonsynonymous SNVNM_015137c.G1781Ap.R594H34.08.26E-6Leblond2019 E
EFR3A     20072chr8:
132991621-132991621		AGexonicUnknownnonsynonymous SNVNM_015137c.A1528Gp.I510V14.07-Gupta2014 T
EFR3A     98HI0204Achr8:
132996393-132996393		AGexonicUnknownnonsynonymous SNVNM_015137c.A1583Gp.Q528R23.6-Gupta2014 T
EFR3A     08C77631chr8:
132996405-132996405		GAexonicUnknownnonsynonymous SNVNM_015137c.G1595Ap.R532Q19.771.0E-4Gupta2014 T
EFR3A     98HI0587Achr8:
132996507-132996507		AGexonicUnknownnonsynonymous SNVNM_015137c.A1697Gp.E566G29.03.319E-5Gupta2014 T
EFR3A     2-0503-004chr8:
133000440-133000440		AATTTCCTTCTATintronicDe novo--Yuen2017 G
EFR3A     08C73985Achr8:
132998507-132998507		AGexonicUnknownnonsynonymous SNVNM_015137c.A1936Gp.M646V11.232.724E-5Gupta2014 T
EFR3A     00HI1752Bchr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     2-0310-003chr8:
133000440-133000440		AATTTCCTTCTATintronicDe novo--Yuen2017 G
EFR3A     03HI2446Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     03HI2580Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     04HI3277Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     04HI3363Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     04HI3527Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     05HI4355Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     mAGRE5438chr8:
132916561-132916562		TGTexonicPaternalframeshift deletionNM_015137c.3delGp.M1fs--Cirnigliaro2023 G
EFR3A     05HI4510Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     HI4936chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     05C49617Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     Wang2023:738chr8:
132980615-132980615		TCexonicDe novononsynonymous SNVNM_015137c.T929Cp.V310A18.26-Wang2023 E
EFR3A     08C73224Achr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     08C74195chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     08C74347chr8:
133015528-133015528		AGexonicUnknownnonsynonymous SNVNM_015137c.A2356Gp.I786V9.8770.0045Gupta2014 T
EFR3A     REACH000065chr8:
132984321-132984321		GCintronicDe novo--Trost2022 G
EFR3A     4-0088-003chr8:
132992466-132992466		TCintronicDe novo--Trost2022 G
EFR3A     MT_154.3chr8:
132924865-132924865		AGintronicDe novo--Trost2022 G
EFR3A     MSSNG00242-003chr8:
132980457-132980457		GAintronicDe novo--Trost2022 G
EFR3A     PN400415chr8:
132997219-132997219		GAexonicUnknownnonsynonymous SNVNM_015137c.G1781Ap.R594H34.08.26E-6Leblond2019 E
EFR3A     MSSNG00362-003chr8:
132916286-132916286		CTupstreamDe novo--Trost2022 G
EFR3A     PN400231chr8:
132997219-132997219		GAexonicUnknownnonsynonymous SNVNM_015137c.G1781Ap.R594H34.08.26E-6Leblond2019 E
EFR3A     AU3881301chr8:
132975415-132975415		ACintronicDe novo--Trost2022 G
Yuen2017 G
EFR3A     MSSNG00414-003chr8:
133019978-133019978		AGintronicDe novo--Trost2022 G
EFR3A     PN400564chr8:
132997219-132997219		GAexonicUnknownnonsynonymous SNVNM_015137c.G1781Ap.R594H34.08.26E-6Leblond2019 E
EFR3A     PN400347chr8:
132997219-132997219		GAexonicUnknownnonsynonymous SNVNM_015137c.G1781Ap.R594H34.08.26E-6Leblond2019 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
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