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Results for "AHNAK"

Variant Events: 38

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
AHNAK     210-18128-301chr11:
62298073-62298073
TTCGGCCexonicUnknownframeshift insertionNM_001620c.3815_3816insGGCCGp.R1272fs--Wang2020 T
Wang2020 T
AHNAK     AU083003chr11:
62284553-62284553
CTexonicUnknownnonsynonymous SNVNM_001620c.G17336Ap.R5779H18.319.084E-5Stessman2017 T
Wang2020 T
Wang2020 T
AHNAK     1-0495-003chr11:
62293912-62293912
AGexonicDe novosynonymous SNVNM_001620c.T7977Cp.D2659D-8.236E-6Yuen2017 G
AHNAK     AU0903301chr11:
62288250-62288250
CTexonicUnknownnonsynonymous SNVNM_001620c.G13639Ap.D4547N17.048.239E-6Wang2020 T
Wang2020 T
Wang2020 T
AHNAK     HN0174.p1chr11:
62303561-62303561
CTexonicUnknownnonsynonymous SNVNM_001620
NM_024060
c.G10A
c.G10A
p.E4K
p.E4K
21.38.886E-6Wang2020 T
Wang2020 T
AHNAK     AU1087301chr11:
62288250-62288250
CTexonicUnknownnonsynonymous SNVNM_001620c.G13639Ap.D4547N17.048.239E-6Wang2020 T
Wang2020 T
AHNAK     SF0009908.p1chr11:
62286302-62286302
AGexonicDe novononsynonymous SNVNM_001620c.T15587Cp.I5196T10.84-Wang2020 T
AHNAK     SD0030.p1chr11:
62293809-62293809
TTAexonicMaternalstopgainNM_001620c.8079dupTp.K2694_F2695delinsX--Guo2018 T
Wang2020 T
Wang2020 T
AHNAK     M23705chr11:
62303548-62303548
CTexonicUnknownnonsynonymous SNVNM_001620
NM_024060
c.G23A
c.G23A
p.R8Q
p.R8Q
27.6-Wang2020 T
Wang2020 T
AHNAK     GD0058.p1chr11:
62293941-62293941
CAexonicUnknownnonsynonymous SNVNM_001620c.G7948Tp.G2650C19.36-Wang2020 T
Wang2020 T
AHNAK     DEASD_0055_001chr11:
62297085-62297085
GAexonicDe novononsynonymous SNVNM_001620c.C4804Tp.P1602S13.01-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
AHNAK     01062-Y4A8Zchr11:
62284762-62284762
CCTexonicUnknownframeshift insertionNM_001620c.17126dupAp.K5709fs--Wang2020 T
Wang2020 T
AHNAK     ASDFI_1049chr11:
62302541-62302541
GAexonicDe novosynonymous SNVNM_001620
NM_024060
c.C276T
c.C276T
p.R92R
p.R92R
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
AHNAK     259357chr11:
62286478-62286479
CTCexonicUnknownframeshift deletionNM_001620c.15410delAp.K5137fs--Wang2020 T
Wang2020 T
AHNAK     AU3808304chr11:
62313260-62313260
CTintronicDe novo--Yuen2017 G
AHNAK     329407 Complex Event; expand row to view variants  Unknownframeshift deletion, frameshift substitutionNM_001620
NM_001620
c.16311_16321del
c.16311_16323AA
p.G5437fs
N/A
--Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
AHNAK     M23749chr11:
62302513-62302513
GAexonicUnknownnonsynonymous SNVNM_001620
NM_024060
c.C304T
c.C304T
p.R102C
p.R102C
18.244.998E-5Stessman2017 T
AHNAK     GX0189.p1chr11:
62286312-62286312
GAexonicMaternalstopgainNM_001620c.C15577Tp.Q5193X56.0-Guo2018 T
Wang2020 T
Wang2020 T
AHNAK     GX0442.p1chr11:
62284793-62284795
TCGTexonicMaternalframeshift deletionNM_001620c.17094_17095delp.G5698fs-8.277E-6Guo2018 T
Wang2020 T
Wang2020 T
AHNAK     SSC11936chr11:
62285724-62285724
CTexonicDe novononsynonymous SNVNM_001620c.G16165Ap.A5389T10.76-Lim2017 E
AHNAK     62742457chr11:
62303416-62303416
CAsplicingUnknownsplicing22.4-Wang2020 T
Wang2020 T
AHNAK     318663chr11:
62302554-62302554
CAexonicUnknownnonsynonymous SNVNM_001620
NM_024060
c.G263T
c.G263T
p.R88L
p.R88L
25.9-Wang2020 T
Wang2020 T
AHNAK     SD0030.p1chr11:
62284793-62284795
TCGTexonicPaternal, Unknownframeshift deletionNM_001620c.17094_17095delp.G5698fs-8.277E-6Guo2018 T
Wang2020 T
Wang2020 T
Wang2020 T
AHNAK     641-05-104712chr11:
62284581-62284582
AGAexonicDe novoframeshift deletionNM_001620c.17307delCp.S5769fs--Satterstrom2020 E
AHNAK     00877-U3C4Xchr11:
62284554-62284554
GAexonicUnknownnonsynonymous SNVNM_001620c.C17335Tp.R5779C15.628.26E-6Wang2020 T
AHNAK     M20268chr11:
62284524-62284526
ACTAexonicMaternalframeshift deletionNM_001620c.17363_17364delp.E5788fs--Wang2016 T
AHNAK     3-0080-000chr11:
62267720-62267720
AGintronicDe novo--Yuen2016 G
AHNAK     789chr11:
62302555-62302555
GAexonicMaternalnonsynonymous SNVNM_001620
NM_024060
c.C262T
c.C262T
p.R88C
p.R88C
21.83.323E-5Wang2020 T
Wang2020 T
AHNAK     G01-GEA-132-HIchr11:
62297933-62297933
TCexonicDe novononsynonymous SNVNM_001620c.A3956Gp.K1319R11.99-Lim2017 E
Satterstrom2020 E
AHNAK     217-14061-1040chr11:
62259224-62259224
GCexonicPaternalstopgainNM_024060c.C422Gp.S141X17.293.29E-5Stessman2017 T
Wang2020 T
Wang2020 T
AHNAK     M17634 Complex Event; expand row to view variants  Maternalframeshift deletionNM_001620
NM_001620
NM_001620
c.13579delA
c.13579_13580del
c.13580delA
p.N4527fs
p.N4527fs
p.N4527fs
--Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
AHNAK     M20684 Complex Event; expand row to view variants  Maternalframeshift deletionNM_001620
NM_001620
c.17363_17364del
c.17358_17364del
p.E5788fs
p.E5786fs
--Stessman2017 T
Wang2016 T
AHNAK     M20567 Complex Event; expand row to view variants  Maternalnonframeshift deletion, frameshift deletionNM_001620
NM_001620
NM_001620
c.16810_16811del
c.16811_16813del
c.16811_16812del
p.S5604fs
p.5604_5605del
p.S5604fs
--Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
AHNAK     14351.p1chr11:
62285724-62285724
CTexonicDe novononsynonymous SNVNM_001620c.G16165Ap.A5389T10.76-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
AHNAK     1435chr11:
62286117-62286117
GAexonicPaternalstopgainNM_001620c.C15772Tp.Q5258X56.0-Wang2020 T
Wang2020 T
AHNAK     60398416chr11:
62284554-62284554
GAexonicUnknownnonsynonymous SNVNM_001620c.C17335Tp.R5779C15.628.26E-6Wang2020 T
Wang2020 T
AHNAK     532.101chr11:
62286009-62286009
TTAexonicUnknownframeshift insertionNM_001620c.15879dupTp.M5294fs--Wang2020 T
Wang2020 T
AHNAK     M21477chr11:
62295843-62295843
CTexonicUnknownnonsynonymous SNVNM_001620c.G6046Ap.G2016S34.0-Guo2018 T
Wang2016 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.
Variant event count
Curation notesView
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