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Results for "ASXL3"

Variant Events: 100

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
ASXL3     M16220chr18:
31319472-31319472
TGexonicMaternalnonsynonymous SNVNM_030632c.T2104Gp.S702A11.92-Guo2018 T
ASXL3     AU050603chr18:
31170533-31170533
GCintronicDe novo--Yuen2017 G
ASXL3     M13465chr18:
31319109-31319109
GAexonicMaternalnonsynonymous SNVNM_030632c.G1741Ap.G581S7.743-Guo2018 T
ASXL3     GX0149.p1chr18:
31323981-31323983
CTGCexonicDe novoframeshift deletionNM_030632c.4170_4171delp.T1390fs--Guo2018 T
Wang2020 T
Wang2020 T
ASXL3     M27809chr18:
31320142-31320142
AGexonicMaternalnonsynonymous SNVNM_030632c.A2774Gp.H925R16.03-Guo2018 T
ASXL3     M19658chr18:
31319481-31319481
TAexonicMaternalnonsynonymous SNVNM_030632c.T2113Ap.S705T17.71-Guo2018 T
ASXL3     AU1987304chr18:
31292185-31292185
TGintronicDe novo--Yuen2017 G
ASXL3     1-0054-003chr18:
31293305-31293305
AACCCCCCCintronicDe novo--Yuen2017 G
ASXL3     M21577chr18:
31323788-31323788
TCexonicMaternalnonsynonymous SNVNM_030632c.T3976Cp.S1326P1.1837.459E-5Guo2018 T
ASXL3     M08674chr18:
31323088-31323088
GCexonicMaternalnonsynonymous SNVNM_030632c.G3276Cp.E1092D16.76-Guo2018 T
ASXL3     M08098chr18:
31324893-31324893
CTexonicMaternalnonsynonymous SNVNM_030632c.C5081Tp.P1694L0.7664.144E-5Guo2018 T
ASXL3     M11403chr18:
31324095-31324095
GAexonicMaternalnonsynonymous SNVNM_030632c.G4283Ap.S1428N5.9918.29E-6Guo2018 T
ASXL3     GX0083.p1chr18:
31325279-31325279
CTexonicDe novostopgainNM_030632c.C5467Tp.R1823X44.0-Guo2018 T
Wang2020 T
Wang2020 T
ASXL3     M08602chr18:
31320333-31320333
CTexonicMaternalnonsynonymous SNVNM_030632c.C2965Tp.R989W14.42-Guo2018 T
ASXL3     GX0384.p1chr18:
31319462-31319463
ACAexonicDe novoframeshift deletionNM_030632c.2095delCp.P699fs--Guo2018 T
Wang2020 T
Wang2020 T
ASXL3     M18396chr18:
31320216-31320216
GAexonicMaternalnonsynonymous SNVNM_030632c.G2848Ap.D950N13.4-Guo2018 T
ASXL3     M08446chr18:
31323051-31323051
CTexonicMaternalnonsynonymous SNVNM_030632c.C3239Tp.A1080V17.15-Guo2018 T
ASXL3     M01793chr18:
31320346-31320346
CTexonicMaternalnonsynonymous SNVNM_030632c.C2978Tp.S993F7.646-Guo2018 T
ASXL3     11782.p1chr18:
31207035-31207035
GCintronicDe novo--Wilfert2021 G
ASXL3     Li2017:22913chr18:
31224889-31224889
AGexonicUnknownnonsynonymous SNVNM_030632c.A169Gp.M57V21.1-Li2017 T
ASXL3     M10090chr18:
31326285-31326285
ACexonicMaternalnonsynonymous SNVNM_030632c.A6473Cp.H2158P17.396.625E-5Guo2018 T
ASXL3     Husson2020:85chr18:
31323549-31323549
CAexonicstopgainNM_030632c.C3737Ap.S1246X40.0-Husson2020 E
ASXL3     7-0024-005chr18:
31225543-31225543
ATintronicDe novo--Yuen2017 G
ASXL3     iHART1921chr18:
31251813-31251813
TTAexonicPaternalframeshift insertionNM_030632c.699dupAp.L233fs--Ruzzo2019 G
ASXL3     M32098chr18:
31324118-31324118
AGexonicPaternalnonsynonymous SNVNM_030632c.A4306Gp.S1436G11.44-Guo2018 T
ASXL3     GX0410.p1chr18:
31324022-31324022
AGexonicPaternalnonsynonymous SNVNM_030632c.A4210Gp.T1404A9.259-Guo2018 T
ASXL3     M30363chr18:
31324892-31324892
CTexonicPaternalnonsynonymous SNVNM_030632c.C5080Tp.P1694S2.729-Guo2018 T
ASXL3     M30366chr18:
31324343-31324343
GAexonicPaternalnonsynonymous SNVNM_030632c.G4531Ap.V1511I0.0032.0E-4Guo2018 T
ASXL3     GX0074.p1chr18:
31226221-31226221
TCexonicPaternalnonsynonymous SNVNM_030632c.T259Cp.S87P15.73-Guo2018 T
ASXL3     M30928chr18:
31320129-31320129
AGexonicPaternalnonsynonymous SNVNM_030632c.A2761Gp.R921G14.0-Guo2018 T
ASXL3     GX0103.p1chr18:
31319536-31319536
CGexonicPaternalnonsynonymous SNVNM_030632c.C2168Gp.P723R14.88.283E-6Guo2018 T
ASXL3     GX0197.p1chr18:
31325261-31325261
CGexonicPaternalnonsynonymous SNVNM_030632c.C5449Gp.P1817A12.67-Guo2018 T
ASXL3     GX0007.p1chr18:
31325064-31325064
CTexonicPaternalnonsynonymous SNVNM_030632c.C5252Tp.T1751M19.891.659E-5Guo2018 T
ASXL3     AU3680302chr18:
31230004-31230004
GAintronicDe novo--Yuen2017 G
ASXL3     GX0466.p1chr18:
31326285-31326285
ACexonicPaternalnonsynonymous SNVNM_030632c.A6473Cp.H2158P17.396.625E-5Guo2018 T
ASXL3     HEN0003.p1chr18:
31325804-31325804
GCexonicPaternalnonsynonymous SNVNM_030632c.G5992Cp.E1998Q13.338.317E-5Guo2018 T
ASXL3     GX0539.p1chr18:
31324877-31324877
CGexonicPaternalnonsynonymous SNVNM_030632c.C5065Gp.P1689A2.808-Guo2018 T
ASXL3     SD0088.p1chr18:
31226219-31226219
CTexonicPaternalnonsynonymous SNVNM_030632c.C257Tp.S86L24.3-Guo2018 T
ASXL3     DEASD_0395_001chr18:
31322918-31322918
CTexonicDe novostopgainNM_030632c.C3106Tp.R1036X38.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
ASXL3     M03353chr18:
31320346-31320346
CTexonicUnknownnonsynonymous SNVNM_030632c.C2978Tp.S993F7.646-Guo2018 T
ASXL3     HEN0037.p1chr18:
31324716-31324716
AGexonicPaternalnonsynonymous SNVNM_030632c.A4904Gp.E1635G5.121-Guo2018 T
ASXL3     NDAR_INVLR026ZEP_wes1chr18:
31323981-31323981
CCTexonicDe novoframeshift insertionNM_030632c.4170dupTp.T1390fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
ASXL3     HEN0162.p1chr18:
31323195-31323195
GAexonicPaternalnonsynonymous SNVNM_030632c.G3383Ap.R1128Q15.59-Guo2018 T
ASXL3     SF0106896.p1chr18:
31320169-31320169
TGexonicDe novostopgainNM_030632c.T2801Gp.L934X18.12-Wang2020 T
ASXL3     SF0096551.p2chr18:
31320169-31320169
TGexonicDe novostopgainNM_030632c.T2801Gp.L934X18.12-Wang2020 T
ASXL3     SF0010005.p1chr18:
31324134-31324134
CGexonicDe novostopgainNM_030632c.C4322Gp.S1441X42.0-Wang2020 T
ASXL3     SF0108176.p1chr18:
31323559-31323563
TAAAGTexonicDe novoframeshift deletionNM_030632c.3748_3751delp.K1250fs--Wang2020 T
ASXL3     SF0136734.p1chr18:
31319342-31319346
TACAGTexonicDe novoframeshift deletionNM_030632c.1975_1978delp.T659fs--Wang2020 T
ASXL3     AU1244301chr18:
31318450-31318450
GAsplicingInherited, Unknownsplicing15.16-Stessman2017 T
Wang2020 T
Wang2020 T
ASXL3     AU049304chr18:
31295055-31295055
GAintronicDe novo--Yuen2017 G
ASXL3     GX0235.p1chr18:
31323051-31323051
CTexonicMaternalnonsynonymous SNVNM_030632c.C3239Tp.A1080V17.15-Guo2018 T
ASXL3     GX0024.p1chr18:
31322990-31322990
CTexonicMaternalnonsynonymous SNVNM_030632c.C3178Tp.R1060W17.88.402E-6Guo2018 T
Wang2020 T
Wang2020 T
ASXL3     HN0102.p1chr18:
31323788-31323788
TCexonicMaternalnonsynonymous SNVNM_030632c.T3976Cp.S1326P1.1837.459E-5Guo2018 T
ASXL3     HN0122.p1chr18:
31323549-31323549
CTexonicMaternalnonsynonymous SNVNM_030632c.C3737Tp.S1246L16.758.293E-6Guo2018 T
ASXL3     GX0516.p1chr18:
31320307-31320307
CGexonicMaternalnonsynonymous SNVNM_030632c.C2939Gp.A980G22.6-Guo2018 T
ASXL3     GX0187.p1chr18:
31319536-31319536
CGexonicMaternalnonsynonymous SNVNM_030632c.C2168Gp.P723R14.88.283E-6Guo2018 T
ASXL3     AU4372309chr18:
31354731-31354731
AGintergenicDe novo--Yuen2017 G
ASXL3     GX0157.p1chr18:
31324983-31324983
CGexonicMaternalnonsynonymous SNVNM_030632c.C5171Gp.T1724S3.603-Guo2018 T
ASXL3     GX0180.p1chr18:
31324332-31324332
CGexonicMaternalnonsynonymous SNVNM_030632c.C4520Gp.T1507R12.83-Guo2018 T
ASXL3     SP0007002chr18:
31325781-31325781
TTATCCexonicDe novoframeshift insertionNM_030632c.5969_5970insATCCp.L1990fs--Feliciano2019 E
ASXL3     HEN0252.p1chr18:
31319823-31319823
GAexonicUnknownnonsynonymous SNVNM_030632c.G2455Ap.A819T0.0468.328E-6Guo2018 T
ASXL3     HEN0294.p1chr18:
31318749-31318749
AGexonicUnknownnonsynonymous SNVNM_030632c.A1381Gp.S461G12.64-Guo2018 T
ASXL3     M23834chr18:
31241618-31241618
CC/GexonicDe novo--Guo2018 T
ASXL3     2-1389-003chr18:
31257566-31257566
TCintronicDe novo--Yuen2017 G
ASXL3     3367chr18:
31322990-31322990
CTexonicUnknownnonsynonymous SNVNM_030632c.C3178Tp.R1060W17.88.402E-6Wang2020 T
ASXL3     JS0003.p1chr18:
31325507-31325507
CC/TexonicDe novo--Guo2018 T
ASXL3     1-0458-005chr18:
31167773-31167773
GAintronicDe novo--Yuen2017 G
ASXL3     HN0116.p1chr18:
31250700-31250700
CTexonicUnknownnonsynonymous SNVNM_030632c.C541Tp.R181C17.96-Wang2020 T
Wang2020 T
ASXL3     210-18226-304chr18:
31323338-31323338
CTexonicUnknownnonsynonymous SNVNM_030632c.C3526Tp.R1176W20.24.157E-5Wang2020 T
ASXL3     AU1802301chr18:
31250700-31250700
CTexonicUnknownnonsynonymous SNVNM_030632c.C541Tp.R181C17.96-Wang2020 T
ASXL3     M20692chr18:
31318468-31318468
ACexonicPaternalnonsynonymous SNVNM_030632c.A1100Cp.E367A14.69.194E-6Guo2018 T
ASXL3     M08419chr18:
31250746-31250746
CTexonicPaternalnonsynonymous SNVNM_030632c.C587Tp.S196L19.349.252E-5Guo2018 T
ASXL3     M19810chr18:
31319328-31319328
TAexonicPaternalnonsynonymous SNVNM_030632c.T1960Ap.S654T18.871.692E-5Guo2018 T
ASXL3     M12510chr18:
31318843-31318843
TCexonicPaternalnonsynonymous SNVNM_030632c.T1475Cp.I492T0.024-Guo2018 T
ASXL3     M23227chr18:
31187576-31187576
AGexonicPaternalnonsynonymous SNVNM_030632c.A73Gp.N25D16.17-Guo2018 T
ASXL3     M12362chr18:
31241618-31241618
CC/GexonicPaternal--Guo2018 T
ASXL3     M08509chr18:
31226219-31226219
CTexonicPaternalnonsynonymous SNVNM_030632c.C257Tp.S86L24.3-Guo2018 T
ASXL3     M18388chr18:
31323788-31323788
TCexonicPaternalnonsynonymous SNVNM_030632c.T3976Cp.S1326P1.1837.459E-5Guo2018 T
ASXL3     M02363chr18:
31323758-31323758
AGexonicPaternalnonsynonymous SNVNM_030632c.A3946Gp.S1316G7.313-Guo2018 T
ASXL3     20705-32533chr18:
31324700-31324704
CAAAACexonicframeshift deletionNM_030632c.4889_4892delp.Q1630fs--Callaghan2019 G
ASXL3     M16056chr18:
31324464-31324464
CTexonicPaternalnonsynonymous SNVNM_030632c.C4652Tp.T1551I0.05-Guo2018 T
ASXL3     M13413chr18:
31324254-31324254
TAexonicPaternalnonsynonymous SNVNM_030632c.T4442Ap.L1481Q17.51-Guo2018 T
ASXL3     M08781chr18:
31323088-31323088
GCexonicPaternalnonsynonymous SNVNM_030632c.G3276Cp.E1092D16.76-Guo2018 T
ASXL3     M12434chr18:
31319829-31319829
GAexonicPaternalnonsynonymous SNVNM_030632c.G2461Ap.E821K11.57-Guo2018 T
ASXL3     M04453chr18:
31323609-31323609
CTexonicPaternalnonsynonymous SNVNM_030632c.C3797Tp.S1266F18.98-Guo2018 T
ASXL3     M08512chr18:
31323500-31323500
CGexonicPaternalnonsynonymous SNVNM_030632c.C3688Gp.L1230V17.29-Guo2018 T
ASXL3     M19612chr18:
31326261-31326261
TCexonicPaternalnonsynonymous SNVNM_030632c.T6449Cp.L2150P14.478.282E-6Guo2018 T
ASXL3     M15039chr18:
31326032-31326032
GAexonicPaternalnonsynonymous SNVNM_030632c.G6220Ap.G2074S9.8547.551E-5Guo2018 T
ASXL3     M16056chr18:
31325187-31325187
CGexonicPaternalnonsynonymous SNVNM_030632c.C5375Gp.P1792R8.392-Guo2018 T
ASXL3     M19639chr18:
31324717-31324717
GCexonicPaternalnonsynonymous SNVNM_030632c.G4905Cp.E1635D8.5272.522E-5Guo2018 T
ASXL3     M08626chr18:
31325600-31325600
CGexonicPaternalnonsynonymous SNVNM_030632c.C5788Gp.Q1930E13.968.298E-6Guo2018 T
ASXL3     M10141chr18:
31325600-31325600
CGexonicPaternalnonsynonymous SNVNM_030632c.C5788Gp.Q1930E13.968.298E-6Guo2018 T
ASXL3     2-1709-003chr18:
31324718-31324718
CTexonicDe novostopgainNM_030632c.C4906Tp.Q1636X38.0-Wang2020 T
Yuen2017 G
ASXL3     Mahjani2021:85chr18:
31324020-31324022
TCATexonicframeshift deletionNM_030632c.4209_4210delp.V1403fs--Mahjani2021 E
ASXL3     217-14320-4340chr18:
31323338-31323338
CTexonicUnknownnonsynonymous SNVNM_030632c.C3526Tp.R1176W20.24.157E-5Stessman2017 T
Wang2020 T
Wang2020 T
ASXL3     SD0008.p1chr18:
31319823-31319823
GAexonicMaternalnonsynonymous SNVNM_030632c.G2455Ap.A819T0.0468.328E-6Guo2018 T
ASXL3     SD0061.p1chr18:
31226219-31226219
CTexonicMaternalnonsynonymous SNVNM_030632c.C257Tp.S86L24.3-Guo2018 T
ASXL3     AU3646301chr18:
31289484-31289484
GCintronicDe novo--Yuen2017 G
ASXL3     Cukier2014:37425chr18:
31326012-31326012
TGexonicUnknownnonsynonymous SNVNM_030632c.T6200Gp.L2067R16.010.0063Cukier2014 E
ASXL3     1-0558-003chr18:
31270346-31270346
CTintronicDe novo--Yuen2017 G
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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