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Results for "NAA15"

Variant Events: 58

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
NAA15     SF0098672.p1chr4:
140282981-140282981
TGexonicnonsynonymous SNVNM_057175c.T1643Gp.L548R25.3-Wang2020 T
NAA15     SF0122792.p1chr4:
140272350-140272351
ATAexonicframeshift deletionNM_057175c.818delTp.M273fs--Wang2020 T
NAA15     160658194898-Cchr4:
140262101-140262101
ATexonicDe novostopgainNM_057175c.A280Tp.K94X38.0-Fu2022 E
NAA15     GX0410.p1chr4:
140255347-140255347
ACexonicDe novononsynonymous SNVNM_057175c.A74Cp.Q25P22.4-Guo2018 T
NAA15     Ishay2021:22chr4:
140262101-140262101
ATexonicDe novostopgainNM_057175c.A280Tp.K94X38.0-Ishay2021 E
NAA15     GX0410.p1chr4:
140283079-140283079
GAexonicPaternalnonsynonymous SNVNM_057175c.G1741Ap.E581K27.41.664E-5Guo2018 T
NAA15     1-0092-003chr4:
140285788-140285788
ACintronicDe novo--Trost2022 G
Yuen2017 G
NAA15     AU4099301chr4:
140349659-140349659
TAintergenicDe novo--Yuen2017 G
NAA15     M27877chr4:
140222936-140222936
CA/CexonicPaternal--Guo2018 T
NAA15     SAGE_146.03chr4:
140262155-140262155
GAexonicUnknownnonsynonymous SNVNM_057175c.G334Ap.D112N36.0-Wang2020 T
NAA15     5-0050-004chr4:
140305899-140305899
AATTintronicDe novo--Trost2022 G
Yuen2017 G
NAA15     M30862chr4:
140282877-140282877
GAsplicingDe novosplicing24.4-Guo2018 T
NAA15     1-0406-003chr4:
140231447-140231447
AGintronicDe novo--Trost2022 G
Yuen2017 G
NAA15     M26881chr4:
140275201-140275201
GAexonicPaternalnonsynonymous SNVNM_057175c.G1036Ap.V346I24.31.657E-5Guo2018 T
NAA15     03C14733chr4:
140258087-140258092
TGACTTTexonicDe novoframeshift deletionNM_057175c.226_230delp.D76fs--Stessman2017 T
Stessman2017 T
NAA15     7-0095-003chr4:
140305899-140305899
AATTintronicDe novo--Trost2022 G
Yuen2017 G
NAA15     PN400581chr4:
140283079-140283079
GAexonicUnknownnonsynonymous SNVNM_057175c.G1741Ap.E581K27.41.664E-5Leblond2019 E
NAA15     AU3881302chr4:
140363942-140363952
AATATATATATAATATATATATATintergenicDe novo--Yuen2017 G
NAA15     ACGC_GX0410.p1chr4:
140283079-140283079
GAexonicPaternalnonsynonymous SNVNM_057175c.G1741Ap.E581K27.41.664E-5Wang2020 T
NAA15     AU031003 Complex Event; expand row to view variants  De novoframeshift deletionNM_057175
NM_057175
NM_057175
c.530_531del
c.529_530del
c.532_533del
p.T177fs
p.T177fs
p.Q178fs
--Stessman2017 T
Stessman2017 T
Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE
NAA15     ACGC_M27877chr4:
140222936-140222936
CAexonicPaternalnonsynonymous SNVNM_057175c.C5Ap.P2Q27.5-Wang2020 T
NAA15     170141chr4:
140278617-140278617
CTexonicDe novostopgainNM_057175c.C1165Tp.Q389X40.0-Fu2022 E
NAA15     11724-1chr4:
140270692-140270692
AGexonicDe novosynonymous SNVNM_057175c.A768Gp.E256E--Fu2022 E
NAA15     2-1132-003chr4:
140340790-140340790
ACintergenicDe novo--Yuen2017 G
NAA15     ACGC_HN0189.p1chr4:
140278596-140278596
CAexonicMaternalnonsynonymous SNVNM_057175c.C1144Ap.Q382K33.0-Wang2020 T
NAA15     JASD_Fam0048chr4:
140262083-140262084
CTCexonicDe novoframeshift deletionNM_057175c.263delTp.L88fs--Takata2018 E
NAA15     SanDiego_00672-Q2E7Schr4:
140275196-140275196
ATexonicUnknownnonsynonymous SNVNM_057175c.A1031Tp.E344V23.3-Wang2020 T
NAA15     1-0609-003chr4:
140266944-140266944
AGintronicDe novo--Trost2022 G
Yuen2017 G
NAA15     SP0365487chr4:
140272766-140272766
GCsplicingsplicing18.07-Zhou2022 GE
NAA15     SP0174104chr4:
140299913-140299914
AGAexonicDe novoframeshift deletionNM_057175c.2061delGp.K687fs--Trost2022 G
Zhou2022 GE
NAA15     GX0330.p1chr4:
140270660-140270660
GAexonicMaternalnonsynonymous SNVNM_057175c.G736Ap.V246I10.231.735E-5Guo2018 T
NAA15     1-0699-003chr4:
140367906-140367906
AGintergenicDe novo--Yuen2017 G
NAA15     ACGC_M30862chr4:
140282877-140282877
GAsplicingDe novosplicing24.4-Wang2020 T
NAA15     AGRE_AU031003chr4:
140264105-140264107
AACAexonicDe novoframeshift deletionNM_057175c.529_530delp.T177fs--Wang2020 T
NAA15     AU3913301chr4:
140236248-140236248
GTintronicDe novo--Trost2022 G
NAA15     AU3125301chr4:
140276421-140276421
TCintronicDe novo--Trost2022 G
Yuen2017 G
NAA15     GX0279.p1chr4:
140272359-140272359
CTexonicMaternalnonsynonymous SNVNM_057175c.C826Tp.R276W14.928.254E-5Guo2018 T
NAA15     AGRE_03C14733chr4:
140258086-140258091
ATGACTAexonicDe novoframeshift deletionNM_057175c.225_229delp.N75fs--Wang2020 T
NAA15     M20699chr4:
140306067-140306067
AA/GexonicMaternal--Guo2018 T
NAA15     1-0161-003chr4:
140283610-140283610
GAintronicDe novo--Trost2022 G
NAA15     SP0098672chr4:
140282981-140282981
TGexonicDe novononsynonymous SNVNM_057175c.T1643Gp.L548R25.3-Fu2022 E
Zhou2022 GE
NAA15     1-0161-003chr4:
140283669-140283670
TGCAintronicDe novo--Trost2022 G
NAA15     1-0161-003chr4:
140283601-140283601
GAintronicDe novo--Trost2022 G
NAA15     1-0161-004chr4:
140283610-140283610
GAintronicDe novo--Trost2022 G
NAA15     REACH000537chr4:
140271639-140271639
CAintronicDe novo--Trost2022 G
NAA15     1-0161-004chr4:
140283601-140283601
GAintronicDe novo--Trost2022 G
NAA15     MSSNG00396-003chr4:
140260914-140260917
AAACAintronicDe novo--Trost2022 G
NAA15     DEASD_0112_001chr4:
140262130-140262130
CGexonicDe novo, UnknownstopgainNM_057175c.C309Gp.Y103X36.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
NAA15     MSSNG00011-004chr4:
140265494-140265494
GTsplicingDe novosplicing19.29-Trost2022 G
NAA15     AC02-1155-01chr4:
140272765-140272765
GTexonicDe novo, Unknownnonsynonymous SNVNM_057175c.G1014Tp.K338N21.5-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
NAA15     SAGE_BK834-02chr4:
140299909-140299909
GCsplicingMaternalsplicing23.2-Wang2020 T
NAA15     SAGE_BK834-01chr4:
140299909-140299909
GCsplicingMaternalsplicing23.2-Wang2020 T
NAA15     HN0189.p1chr4:
140278596-140278596
CAexonicMaternalnonsynonymous SNVNM_057175c.C1144Ap.Q382K33.0-Guo2018 T
NAA15     MSSNG00123-003chr4:
140302001-140302001
ATintronicDe novo--Trost2022 G
NAA15     SP0122792chr4:
140272350-140272351
ATAexonicDe novoframeshift deletionNM_057175c.818delTp.M273fs--Antaki2022 GE
Fu2022 E
Zhou2022 GE
NAA15     mAGRE4142chr4:
140258086-140258091
ATGACTAexonicDe novoframeshift deletionNM_057175c.225_229delp.N75fs--Cirnigliaro2023 G
NAA15     AU4462302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
NAA15     Miyake2023:17677chr4:
140262084-140262085
TTTexonicDe novoframeshift deletionNM_057175c.264delTp.L88fs--Miyake2023 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
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