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Results for "NAA15"

Variant Events: 33

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     GX0330.p1chr4:
140270660-140270660
GAexonicMaternalnonsynonymous SNVNM_057175c.G736Ap.V246I10.231.735E-5Guo2018 T
NAA15     146.03chr4:
140262155-140262155
GAexonicUnknownnonsynonymous SNVNM_057175c.G334Ap.D112N36.0-Wang2020 T
Wang2020 T
NAA15     BK834-02chr4:
140299909-140299909
GCsplicingMaternal, Unknownsplicing23.2-Wang2020 T
Wang2020 T
Wang2020 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
Wang2020 T
Wang2020 T
NAA15     1-0699-003chr4:
140367906-140367906
AGintergenicDe novo--Yuen2017 G
NAA15     1-0092-003chr4:
140285788-140285788
ACintronicDe novo--Yuen2017 G
NAA15     AU4099301chr4:
140349659-140349659
TAintergenicDe novo--Yuen2017 G
NAA15     M27877 Complex Event; expand row to view variants  Paternalnonsynonymous SNVNM_057175c.C5Ap.P2Q27.5-Guo2018 T
Wang2020 T
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     M30862chr4:
140282877-140282877
GAsplicingDe novosplicing24.4-Guo2018 T
Wang2020 T
Wang2020 T
NAA15     M20699chr4:
140306067-140306067
AA/GexonicMaternal--Guo2018 T
NAA15     BK834-01chr4:
140299909-140299909
GCsplicingMaternalsplicing23.2-Wang2020 T
Wang2020 T
NAA15     1-0406-003chr4:
140231447-140231447
AGintronicDe novo--Yuen2017 G
NAA15     M26881chr4:
140275201-140275201
GAexonicPaternalnonsynonymous SNVNM_057175c.G1036Ap.V346I24.31.657E-5Guo2018 T
NAA15     03C14733 Complex Event; expand row to view variants  De novoframeshift deletionNM_057175
NM_057175
c.226_230del
c.225_229del
p.D76fs
p.N75fs
--Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T
NAA15     DEASD_0112_001chr4:
140262130-140262130
CGexonicDe novostopgainNM_057175c.C309Gp.Y103X36.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
NAA15     AC02-1155-01chr4:
140272765-140272765
GTexonicDe novononsynonymous SNVNM_057175c.G1014Tp.K338N21.5-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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
Wang2020 T
Wang2020 T
NAA15     PN400581chr4:
140283079-140283079
GAexonicUnknownnonsynonymous SNVNM_057175c.G1741Ap.E581K27.41.664E-5Leblond2019 E
NAA15     AU3881302chr4:
140363942-140363952
AATATATATATAATATATATATATintergenicDe novo--Yuen2017 G
NAA15     SF0098672.p1chr4:
140282981-140282981
TGexonicDe novononsynonymous SNVNM_057175c.T1643Gp.L548R25.3-Wang2020 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
Wang2020 T
Wang2020 T
Yuen2017 G
NAA15     SF0122792.p1chr4:
140272350-140272351
ATAexonicDe novoframeshift deletionNM_057175c.818delTp.M273fs--Wang2020 T
NAA15     AU4462302chr4:
140293676-140293681
TGTTAGTGintronicDe novo--Yuen2017 G
NAA15     2-1132-003chr4:
140340790-140340790
ACintergenicDe novo--Yuen2017 G
NAA15     00672-Q2E7Schr4:
140275196-140275196
ATexonicUnknownnonsynonymous SNVNM_057175c.A1031Tp.E344V23.3-Wang2020 T
Wang2020 T
NAA15     JASD_Fam0048chr4:
140262083-140262084
CTCexonicDe novoframeshift deletionNM_057175c.263delTp.L88fs--Takata2018 E
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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