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Results for "NAA15"

Variant Events: 44

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     1-0609-003chr4:
140266944-140266944		AGintronicDe novo--Yuen2017 G
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     GX0330.p1chr4:
140270660-140270660		GAexonicMaternalnonsynonymous SNVNM_057175c.G736Ap.V246I10.231.735E-5Guo2018 T
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     1-0699-003chr4:
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     1-0092-003chr4:
140285788-140285788		ACintronicDe novo--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--Yuen2017 G
NAA15     AU3125301chr4:
140276421-140276421		TCintronicDe novo--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     M30862chr4:
140282877-140282877		GAsplicingDe novosplicing24.4-Guo2018 T
NAA15     M20699chr4:
140306067-140306067		AA/GexonicMaternal--Guo2018 T
NAA15     SP0098672chr4:
140282981-140282981		TGexonicDe novononsynonymous SNVNM_057175c.T1643Gp.L548R25.3-Fu2022 E
NAA15     1-0406-003chr4:
140231447-140231447		AGintronicDe novo--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     DEASD_0112_001chr4:
140262130-140262130		CGexonicUnknown, De novostopgainNM_057175c.C309Gp.Y103X36.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
NAA15     AC02-1155-01chr4:
140272765-140272765		GTexonicUnknown, De novononsynonymous SNVNM_057175c.G1014Tp.K338N21.5-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
NAA15     SAGE_BK834-02chr4:
140299909-140299909		GCsplicingMaternalsplicing23.2-Wang2020 T
NAA15     SAGE_BK834-01chr4:
140299909-140299909		GCsplicingMaternalsplicing23.2-Wang2020 T
NAA15     7-0095-003chr4:
140305899-140305899		AATTintronicDe novo--Yuen2017 G
NAA15     HN0189.p1chr4:
140278596-140278596		CAexonicMaternalnonsynonymous SNVNM_057175c.C1144Ap.Q382K33.0-Guo2018 T
NAA15     PN400581chr4:
140283079-140283079		GAexonicUnknownnonsynonymous SNVNM_057175c.G1741Ap.E581K27.41.664E-5Leblond2019 E
NAA15     SP0122792chr4:
140272350-140272351		ATAexonicDe novoframeshift deletionNM_057175c.818delTp.M273fs--Antaki2022 GE
Fu2022 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
Wang2020 T
Yuen2017 G
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     AU4462302chr4:
140293676-140293681		TGTTAGTGintronicDe novo--Yuen2017 G
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
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.
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