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Results for "WDFY3"

Variant Events: 103

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
WDFY3     13393.p1chr4:
85637357-85637357
GAintronicDe novo--Turner2016 G
WDFY3     GX0256.p1chr4:
85781714-85781714
GAexonicMaternalnonsynonymous SNVNM_014991c.C31Tp.P11S14.57-Guo2018 T
WDFY3     GX0518.p1chr4:
85748022-85748022
TCexonicMaternalnonsynonymous SNVNM_014991c.A1069Gp.T357A17.718.254E-5Guo2018 T
WDFY3     13946.p1chr4:
85753019-85753019
GCintronicDe novo--Turner2016 G
WDFY3     1-0533-003chr4:
85722860-85722860
GAexonicDe novononsynonymous SNVNM_014991c.C2765Tp.P922L19.94-Yuen2017 G
WDFY3     2-1152-003 Complex Event; expand row to view variants  De novosplicing, frameshift deletionNM_014991c.9725delGp.R3242fs--Yuen2016 G
Yuen2017 G
WDFY3     13094.p1chr4:
85719152-85719152
TAexonicDe novostopgainNM_014991c.A2932Tp.R978X45.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
WDFY3     M20641chr4:
85781627-85781627
GAexonicUnknown, De novononsynonymous SNVNM_014991c.C118Tp.R40W23.4-Guo2018 T
Stessman2017 T
Wang2016 T
WDFY3     SD0059.p1chr4:
85609394-85609394
CTexonicMaternalnonsynonymous SNVNM_014991c.G9388Ap.V3130I22.11.655E-5Guo2018 T
WDFY3     HEN0157.p1chr4:
85715816-85715816
GG/TexonicMaternal--Guo2018 T
WDFY3     HEN0218.p1chr4:
85678099-85678099
GA/GexonicMaternal--Guo2018 T
WDFY3     M20766chr4:
85672836-85672836
CTexonicMaternalnonsynonymous SNVNM_014991c.G5773Ap.A1925T16.434.119E-5Guo2018 T
Wang2016 T
WDFY3     M8584chr4:
85708793-85708793
TCexonicMaternalnonsynonymous SNVNM_014991c.A3743Gp.Y1248C26.68.241E-6Wang2016 T
WDFY3     M10006chr4:
85600231-85600231
CTexonicMaternalnonsynonymous SNVNM_014991c.G9988Ap.D3330N11.754.12E-5Wang2016 T
WDFY3     M26957chr4:
85645723-85645723
CTexonicMaternalnonsynonymous SNVNM_014991c.G7297Ap.V2433I0.4424.136E-5Guo2018 T
Wang2016 T
WDFY3     2-0116-004chr4:
85811295-85811295
CGintronicDe novo--Yuen2017 G
WDFY3     GX0355.p1chr4:
85609337-85609337
GAexonicUnknownstopgainNM_014991c.C9445Tp.R3149X53.0-Guo2018 T
WDFY3     M8542chr4:
85708799-85708799
TCexonicMaternalnonsynonymous SNVNM_014991c.A3737Gp.Y1246C26.22.472E-5Wang2016 T
WDFY3     M23085chr4:
85742287-85742287
TCexonicMaternalnonsynonymous SNVNM_014991c.A1541Gp.H514R9.485-Guo2018 T
Wang2016 T
WDFY3     M08130chr4:
85674885-85674885
CTexonicPaternalnonsynonymous SNVNM_014991c.G5704Ap.V1902I16.56-Guo2018 T
WDFY3     1-0777-003chr4:
85751600-85751600
CTintronicDe novo--Yuen2017 G
WDFY3     M08428chr4:
85626640-85626640
TAexonicPaternalnonsynonymous SNVNM_014991c.A8242Tp.T2748S15.87-Guo2018 T
WDFY3     M08452chr4:
85716106-85716106
GCexonicPaternalnonsynonymous SNVNM_014991c.C3194Gp.P1065R24.2-Guo2018 T
WDFY3     M19711 Complex Event; expand row to view variants  Paternalframeshift insertion, frameshift deletionNM_014991
NM_014991
c.5525dupT
c.5518_5525del
p.L1842fs
p.V1840fs
--Guo2018 T
Wang2016 T
WDFY3     M8650chr4:
85598427-85598427
GAexonicPaternalnonsynonymous SNVNM_014991c.C10382Tp.S3461L19.63.297E-5Wang2016 T
WDFY3     AU070Achr4:
85609385-85609385
CTexonicDe novononsynonymous SNVNM_014991c.G9397Ap.A3133T15.651.0E-4DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
WDFY3     09C96721chr4:
85742365-85742365
TAexonicDe novononsynonymous SNVNM_014991c.A1463Tp.K488M23.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
WDFY3     M15222chr4:
85672820-85672820
GAexonicPaternalnonsynonymous SNVNM_014991c.C5789Tp.A1930V23.82.471E-5Guo2018 T
Wang2016 T
WDFY3     M12352chr4:
85741301-85741301
GAexonicPaternalnonsynonymous SNVNM_014991c.C1630Tp.H544Y15.962.474E-5Guo2018 T
Wang2016 T
WDFY3     Chen2021:77chr4:
85626562-85626562
ATexonicDe novononsynonymous SNVNM_014991c.T8320Ap.W2774R23.3-Chen2021 GET
WDFY3     13094.p1chr4:
85715777-85715777
GAexonicDe novostopgainNM_014991c.C3382Tp.R1128X44.0-Willsey2013 E
WDFY3     M10006chr4:
85750232-85750232
CTexonicDe novononsynonymous SNVNM_014991c.G881Ap.S294N34.03.304E-5Stessman2017 T
Wang2016 T
WDFY3     AU1860302chr4:
85871052-85871052
TCintronicDe novo--Yuen2017 G
WDFY3     SSC06712chr4:
85719152-85719152
TAexonicDe novostopgainNM_014991c.A2932Tp.R978X45.0-Lim2017 E
WDFY3     M08852chr4:
85661457-85661457
ATexonicUnknownnonsynonymous SNVNM_014991c.T6347Ap.L2116Q31.0-Guo2018 T
Wang2016 T
WDFY3     M26796chr4:
85741302-85741302
TAexonicMaternalnonsynonymous SNVNM_014991c.A1629Tp.K543N13.8-Guo2018 T
Wang2016 T
WDFY3     M23757chr4:
85661476-85661476
CTexonicUnknownnonsynonymous SNVNM_014991c.G6328Ap.V2110I13.559.06E-5Wang2016 T
WDFY3     2-1357-003chr4:
85678384-85678384
GAintronicDe novo--Yuen2017 G
WDFY3     AU1223303chr4:
85789842-85789842
TGintronicDe novo--Yuen2017 G
WDFY3     1-0045-004chr4:
85878358-85878358
TCintronicDe novo--Yuen2017 G
WDFY3     2-1693-003chr4:
85617692-85617692
TAintronicDe novo--Yuen2017 G
WDFY3     M8428chr4:
85626640-85626640
TAexonicPaternalnonsynonymous SNVNM_014991c.A8242Tp.T2748S15.87-Wang2016 T
WDFY3     2-1325-003chr4:
85786071-85786071
CTintronicDe novo--Yuen2017 G
WDFY3     HEN0005.p1chr4:
85678252-85678252
ACexonicPaternalnonsynonymous SNVNM_014991c.T5251Gp.C1751G18.160.0012Guo2018 T
WDFY3     HEN0064.p1chr4:
85598439-85598439
CTexonicPaternalnonsynonymous SNVNM_014991c.G10370Ap.G3457D13.42-Guo2018 T
WDFY3     HN0149.p1chr4:
85676502-85676502
CC/TexonicPaternal--Guo2018 T
WDFY3     AU2182302chr4:
85708747-85708747
CTexonicInheritedstopgainNM_014991c.G3789Ap.W1263X46.0-Stessman2017 T
WDFY3     HEN0150.p1chr4:
85605205-85605205
TCexonicPaternalnonsynonymous SNVNM_014991c.A9617Gp.N3206S19.96-Guo2018 T
WDFY3     SP0000607chr4:
85611791-85611791
ACexonicDe novosynonymous SNVNM_014991c.T9231Gp.S3077S--Feliciano2019 E
WDFY3     211-5601-3chr4:
85639690-85639690
CTexonicInheritednonsynonymous SNVNM_014991c.G7639Ap.G2547S36.0-Stessman2017 T
WDFY3     HEN0171.p1chr4:
85594140-85594140
TC/TexonicUnknown--Guo2018 T
WDFY3     M08584chr4:
85708793-85708793
TCexonicMaternalnonsynonymous SNVNM_014991c.A3743Gp.Y1248C26.68.241E-6Guo2018 T
WDFY3     M12507chr4:
85605205-85605205
TCexonicMaternalnonsynonymous SNVNM_014991c.A9617Gp.N3206S19.96-Guo2018 T
WDFY3     M13368chr4:
85742657-85742657
ACexonicMaternalnonsynonymous SNVNM_014991c.T1171Gp.F391V25.4-Guo2018 T
WDFY3     M08542chr4:
85708799-85708799
TCexonicMaternalnonsynonymous SNVNM_014991c.A3737Gp.Y1246C26.22.472E-5Guo2018 T
WDFY3     A4F4Tchr4:
85654657-85654657
CTexonicUnknownnonsynonymous SNVNM_014991c.G7099Ap.D2367N26.22.472E-5Stessman2017 T
WDFY3     M08641chr4:
85731103-85731103
GAexonicMaternalnonsynonymous SNVNM_014991c.C2282Tp.T761M14.255.768E-5Guo2018 T
WDFY3     M17490chr4:
85617311-85617311
CTexonicPaternalnonsynonymous SNVNM_014991c.G8713Ap.A2905T16.61-Guo2018 T
Wang2016 T
WDFY3     A0245chr4:
85626562-85626562
ATexonicDe novononsynonymous SNVNM_014991c.T8320Ap.W2774R23.3-Xiong2019 ET
WDFY3     M8130chr4:
85674885-85674885
CTexonicPaternalnonsynonymous SNVNM_014991c.G5704Ap.V1902I16.56-Wang2016 T
WDFY3     HN0082.p1chr4:
85750250-85750250
CAexonicDe novononsynonymous SNVNM_014991c.G863Tp.C288F26.6-Guo2018 T
WDFY3     M17563chr4:
85603536-85603536
CTexonicPaternalnonsynonymous SNVNM_014991c.G9814Ap.A3272T13.99-Guo2018 T
Wang2016 T
WDFY3     M23199chr4:
85748081-85748081
TCexonicPaternalnonsynonymous SNVNM_014991c.A1010Gp.N337S16.3-Guo2018 T
Wang2016 T
WDFY3     M14999chr4:
85676502-85676502
CTexonicPaternalnonsynonymous SNVNM_014991c.G5476Ap.G1826R22.45.772E-5Guo2018 T
Wang2016 T
WDFY3     M23266chr4:
85715830-85715830
TCexonicPaternalnonsynonymous SNVNM_014991c.A3329Gp.H1110R8.928-Wang2016 T
WDFY3     11185.p1chr4:
85630453-85630453
CTexonicDe novononsynonymous SNVNM_014991c.G8090Ap.R2697K20.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
WDFY3     1-0995-003chr4:
85623790-85623790
CTintronicDe novo--Yuen2017 G
WDFY3     12044.p1chr4:
85715777-85715777
GAexonicDe novostopgainNM_014991c.C3382Tp.R1128X44.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
WDFY3     SX0018.p1chr4:
85704149-85704149
GAexonicDe novononsynonymous SNVNM_014991c.C4141Tp.R1381W19.06-Guo2018 T
WDFY3     M8452chr4:
85716106-85716106
GCexonicUnknownnonsynonymous SNVNM_014991c.C3194Gp.P1065R24.2-Wang2016 T
WDFY3     MAC1246chr4:
85781534-85781534
GAintronicDe novo-2.568E-5Satterstrom2020 E
WDFY3     11905.p1chr4:
85699715-85699715
GTexonicDe novononsynonymous SNVNM_014991c.C4459Ap.H1487N18.17-Ji2016 E
WDFY3     1-0261-003chr4:
85731437-85731437
CTexonicDe novononsynonymous SNVNM_014991c.G1948Ap.G650R34.0-Yuen2017 G
WDFY3     14028.p1chr4:
85887056-85887056
TTTCCGCintronicDe novo--Wilfert2021 G
WDFY3     M30862chr4:
85609276-85609276
CTexonicPaternalnonsynonymous SNVNM_014991c.G9506Ap.R3169Q13.675.78E-5Guo2018 T
WDFY3     HN0060.p1chr4:
85600258-85600258
CTexonicPaternalnonsynonymous SNVNM_014991c.G9961Ap.A3321T2.6631.652E-5Guo2018 T
WDFY3     GX0041.p1chr4:
85654590-85654590
AGexonicPaternalnonsynonymous SNVNM_014991c.T7166Cp.M2389T10.145.0E-4Guo2018 T
WDFY3     GX0113.p1chr4:
85617241-85617241
AGexonicPaternalnonsynonymous SNVNM_014991c.T8783Cp.V2928A18.21-Guo2018 T
WDFY3     GX0490.p1chr4:
85731407-85731407
CGexonicPaternalnonsynonymous SNVNM_014991c.G1978Cp.A660P35.0-Guo2018 T
WDFY3     GX0487.p1chr4:
85724610-85724610
GAexonicPaternalnonsynonymous SNVNM_014991c.C2440Tp.H814Y10.87-Guo2018 T
WDFY3     GX0299.p1chr4:
85715779-85715779
CTexonicPaternalnonsynonymous SNVNM_014991c.G3380Ap.R1127H24.06.603E-5Guo2018 T
WDFY3     GX0423.p1chr4:
85672836-85672836
CTexonicPaternalnonsynonymous SNVNM_014991c.G5773Ap.A1925T16.434.119E-5Guo2018 T
WDFY3     M12474chr4:
85750232-85750232
CTexonicMaternalnonsynonymous SNVNM_014991c.G881Ap.S294N34.03.304E-5Wang2016 T
WDFY3     GX0253.p1chr4:
85657441-85657441
GAexonicPaternalnonsynonymous SNVNM_014991c.C6797Tp.A2266V5.011-Guo2018 T
WDFY3     M32128chr4:
85704134-85704134
CTexonicPaternalnonsynonymous SNVNM_014991c.G4156Ap.A1386T10.062.472E-5Guo2018 T
WDFY3     GX0024.p1chr4:
85676502-85676502
CC/TexonicPaternal--Guo2018 T
WDFY3     M18477chr4:
85678225-85678225
GAexonicDe novostopgainNM_014991c.C5278Tp.Q1760X49.0-Guo2018 T
Stessman2017 T
Wang2016 T
WDFY3     iHART1820chr4:
85609286-85609286
GAexonicPaternalstopgainNM_014991c.C9496Tp.R3166X52.0-Ruzzo2019 G
WDFY3     HEN0307.p1chr4:
85626614-85626614
CTexonicMaternalnonsynonymous SNVNM_014991c.G8268Ap.M2756I34.0-Guo2018 T
WDFY3     M13329chr4:
85626614-85626614
CTexonicMaternalnonsynonymous SNVNM_014991c.G8268Ap.M2756I34.0-Guo2018 T
Wang2016 T
WDFY3     HEN0223.p1chr4:
85758113-85758113
CTexonicMaternalnonsynonymous SNVNM_014991c.G545Ap.R182H34.0-Guo2018 T
WDFY3     M23102chr4:
85717801-85717801
CTexonicMaternalnonsynonymous SNVNM_014991c.G3040Ap.G1014R33.0-Guo2018 T
Wang2016 T
WDFY3     AU4056302chr4:
85814257-85814257
AGintronicDe novo--Yuen2017 G
WDFY3     Mahjani2021:109chr4:
85609277-85609277
GAexonicstopgainNM_014991c.C9505Tp.R3169X52.0-Mahjani2021 E
WDFY3     M16097chr4:
85598427-85598427
GAexonicMaternalnonsynonymous SNVNM_014991c.C10382Tp.S3461L19.63.297E-5Wang2016 T
WDFY3     M20709chr4:
85731103-85731103
GAexonicMaternalnonsynonymous SNVNM_014991c.C2282Tp.T761M14.255.768E-5Guo2018 T
Wang2016 T
WDFY3     Uddin2014:32chr4:
85719152-85719152
TAexonicDe novostopgainNM_014991c.A2932Tp.R978X45.0-Uddin2014 E
WDFY3     GX0150.p1chr4:
85661491-85661491
GAexonicMaternalnonsynonymous SNVNM_014991c.C6313Tp.R2105W21.1-Guo2018 T
WDFY3     HN0045.p1chr4:
85654590-85654590
AGexonicMaternalnonsynonymous SNVNM_014991c.T7166Cp.M2389T10.145.0E-4Guo2018 T
WDFY3     GX0414.p1chr4:
85708833-85708833
CTexonicMaternalnonsynonymous SNVNM_014991c.G3703Ap.G1235S14.11-Guo2018 T
WDFY3     GX0330.p1chr4:
85696278-85696278
GAexonicMaternalnonsynonymous SNVNM_014991c.C4532Tp.A1511V23.3-Guo2018 T
WDFY3     HN0121.p1chr4:
85605260-85605260
CTexonicMaternalnonsynonymous SNVNM_014991c.G9562Ap.A3188T17.918.353E-6Guo2018 T
WDFY3     M32004chr4:
85600180-85600180
TCexonicMaternalnonsynonymous SNVNM_014991c.A10039Gp.I3347V2.553-Guo2018 T
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
Curation notesView
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