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Results for "EFR3A"

Variant Events: 77

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-Satterstrom2020 E
EFR3A     UK10K_SKUSE5080218chr8:
132952779-132952779
GAexonicDe novononsynonymous SNVNM_015137c.G44Ap.R15H35.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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     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
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--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     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     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     PN400415chr8:
132997219-132997219
GAexonicUnknownnonsynonymous SNVNM_015137c.G1781Ap.R594H34.08.26E-6Leblond2019 E
EFR3A     PN400231chr8:
132997219-132997219
GAexonicUnknownnonsynonymous SNVNM_015137c.G1781Ap.R594H34.08.26E-6Leblond2019 E
EFR3A     AU3881301chr8:
132975415-132975415
ACintronicDe novo--Yuen2017 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:

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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
Curation notesView
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