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Results for "KATNAL2"

Variant Events: 67

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
KATNAL2     AU059903chr18:
44589434-44589435		ACAexonicDe novoframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Stessman2017 T
KATNAL2     ACGC_GX0555.p1chr18:
44595645-44595645		GAexonicPaternalnonsynonymous SNVNM_031303c.G664Ap.G222S35.08.283E-6Wang2020 T
KATNAL2     ACGC_M31953chr18:
44595645-44595645		GAexonicMaternalnonsynonymous SNVNM_031303c.G664Ap.G222S35.08.283E-6Wang2020 T
KATNAL2     7-0368-003chr18:
44532661-44532661		CTintronicDe novo--Trost2022 G
KATNAL2     214-17045-1chr18:
44595969-44595969		CTexonicUnknownnonsynonymous SNVNM_031303c.C790Tp.R264W17.05-Stessman2017 T
KATNAL2     1-0957-003chr18:
44627171-44627171		CTintronicDe novo--Trost2022 G
KATNAL2     1-0903-004chr18:
44598156-44598156		GTintronicDe novo--Trost2022 G
KATNAL2     7-0453-003chr18:
44609300-44609300		AGintronicDe novo--Trost2022 G
KATNAL2     REACH000655chr18:
44592799-44592799		CTintronicDe novo--Trost2022 G
KATNAL2     AU3811305chr18:
44539429-44539429		TTAintronicDe novo--Trost2022 G
KATNAL2     2-1753-003chr18:
44545550-44545550		CGintronicDe novo--Trost2022 G
KATNAL2     215-13026-0333chr18:
44603744-44603744		CTexonicUnknownnonsynonymous SNVNM_031303c.C907Tp.R303W17.912.473E-5Stessman2017 T
KATNAL2     1-0559-005chr18:
44602617-44602617		CTintronicDe novo--Yuen2017 G
KATNAL2     TASC_215-13146-1633chr18:
44580782-44580783		CGCexonicPaternalframeshift deletionNM_031303c.90delGp.P30fs--Wang2020 T
KATNAL2     M31953chr18:
44595645-44595645		GAexonicMaternalnonsynonymous SNVNM_031303c.G664Ap.G222S35.08.283E-6Guo2018 T
KATNAL2     Leuven_64642788chr18:
44593470-44593470		GAexonicUnknownnonsynonymous SNVNM_031303c.G589Ap.A197T32.0-Wang2020 T
KATNAL2     Leuven2_64899701chr18:
44589696-44589697		CACexonicUnknownframeshift deletionNM_031303c.475delAp.S159fs-8.247E-6Wang2020 T
KATNAL2     7-0008-003chr18:
44535518-44535518		TCintronicDe novo--Yuen2017 G
KATNAL2     2-1251-003chr18:
44601851-44601851		TCintronicDe novo--Trost2022 G
Yuen2017 G
KATNAL2     iHART2477chr18:
44589434-44589435		ACAexonicMaternalframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Ruzzo2019 G
KATNAL2     iHART3295chr18:
44584649-44584649		CTexonicMaternalstopgainNM_031303c.C160Tp.Q54X37.02.475E-5Ruzzo2019 G
KATNAL2     11008.p1chr18:
44589733-44589733		GAsplicingUnknown, De novosplicing21.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Sanders2012 E
Wang2020 T
Willsey2013 E
Zhou2022 GE
KATNAL2     11872.p1chr18:
44603833-44603833		GCsplicingUnknown, De novosplicing16.29-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
KATNAL2     iHART2478chr18:
44589434-44589435		ACAexonicMaternalframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Ruzzo2019 G
KATNAL2     Leuven_394775chr18:
44589658-44589658		CTexonicUnknownstopgainNM_031303c.C436Tp.R146X35.09.08E-5Wang2020 T
KATNAL2     AGRE_AU071803chr18:
44595655-44595655		GAsplicingMaternalsplicing20.5-Wang2020 T
KATNAL2     ITAN_404chr18:
44603829-44603829		CTexonicMaternalnonsynonymous SNVNM_031303c.C992Tp.P331L21.1-Wang2020 T
KATNAL2     AU009903chr18:
44545012-44545012		AGintronicDe novo--Yuen2017 G
KATNAL2     03C16903chr18:
44595909-44595909		TCexonicDe novononsynonymous SNVNM_031303c.T730Cp.F244L34.0-Stessman2017 T
Stessman2017 T
KATNAL2     2-0022-003chr18:
44528324-44528324		CGintronicDe novo--Yuen2017 G
KATNAL2     AU071803chr18:
44595655-44595655		GAsplicingMaternalsplicing20.5-Stessman2017 T
KATNAL2     1-1000-003chr18:
44545012-44545012		AGintronicDe novo--Yuen2017 G
KATNAL2     Lim2017:5929chr18:
44603833-44603833		GCsplicingDe novosplicing16.29-Lim2017 E
KATNAL2     AU2427302chr18:
44545012-44545012		AGintronicDe novo--Yuen2017 G
KATNAL2     AU4336301chr18:
44541666-44541666		GAintronicDe novo--Trost2022 G
Yuen2017 G
KATNAL2     TASC_210-18162-302chr18:
44601726-44601726		GTexonicUnknownnonsynonymous SNVNM_031303c.G871Tp.G291C22.42.917E-5Wang2020 T
KATNAL2     TASC_210-18162-301chr18:
44601726-44601726		GTexonicUnknownnonsynonymous SNVNM_031303c.G871Tp.G291C22.42.917E-5Wang2020 T
KATNAL2     TASC_215-13026-0333chr18:
44603744-44603744		CTexonicUnknownnonsynonymous SNVNM_031303c.C907Tp.R303W17.912.473E-5Wang2020 T
KATNAL2     APP_106967-100chr18:
44601667-44601667		GAexonicUnknownnonsynonymous SNVNM_031303c.G812Ap.R271H22.93.0E-4Wang2020 T
KATNAL2     TASC_214-17045-1chr18:
44595969-44595969		CTexonicUnknownnonsynonymous SNVNM_031303c.C790Tp.R264W17.05-Wang2020 T
KATNAL2     APP_103532-100chr18:
44626680-44626680		TGexonicUnknownnonsynonymous SNVNM_031303c.T1214Gp.M405R22.48.246E-6Wang2020 T
KATNAL2     AGRE_03C16903chr18:
44595909-44595909		TCexonicDe novononsynonymous SNVNM_031303c.T730Cp.F244L34.0-Wang2020 T
KATNAL2     ACGC_SX0025.p1chr18:
44595640-44595640		TCexonicUnknownnonsynonymous SNVNM_031303c.T659Cp.L220P24.0-Wang2020 T
KATNAL2     Leuven_286873chr18:
44625759-44625759		TAexonicUnknownnonsynonymous SNVNM_031303c.T1141Ap.Y381N20.5-Wang2020 T
KATNAL2     TASC_220-9942-201chr18:
44601667-44601667		GAexonicUnknownnonsynonymous SNVNM_031303c.G812Ap.R271H22.93.0E-4Wang2020 T
KATNAL2     ACGC_HEN0368.p1chr18:
44625715-44625715		CTexonicUnknownnonsynonymous SNVNM_031303c.C1097Tp.P366L19.94-Wang2020 T
KATNAL2     210-18162-301chr18:
44601726-44601726		GTexonicUnknownnonsynonymous SNVNM_031303c.G871Tp.G291C22.42.917E-5Stessman2017 T
KATNAL2     2-1363-003chr18:
44548170-44548170		TCintronicDe novo--Yuen2017 G
KATNAL2     ACGC_GZ0014.p1chr18:
44586020-44586020		CTexonicUnknownstopgainNM_031303c.C328Tp.R110X20.71.0E-4Wang2020 T
KATNAL2     ACGC_GD0099.p1chr18:
44586020-44586020		CTexonicUnknownstopgainNM_031303c.C328Tp.R110X20.71.0E-4Wang2020 T
KATNAL2     ACGC_HEN0151.p1chr18:
44625645-44625645		GTexonicUnknownstopgainNM_031303c.G1027Tp.E343X38.02.491E-5Wang2020 T
KATNAL2     ACGC_M26907chr18:
44625645-44625645		GTexonicUnknownstopgainNM_031303c.G1027Tp.E343X38.02.491E-5Wang2020 T
KATNAL2     Courchesne_01001-W9B8Hchr18:
44595922-44595922		CTexonicUnknownnonsynonymous SNVNM_031303c.C743Tp.A248V35.02.0E-4Wang2020 T
KATNAL2     AGRE_AU059903chr18:
44589434-44589435		ACAexonicDe novoframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Wang2020 T
KATNAL2     Uddin2014:18chr18:
44603833-44603833		GCsplicingDe novosplicing16.29-Uddin2014 E
KATNAL2     SAGE_BK800-01chr18:
44589434-44589435		ACAexonicMaternalframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Wang2020 T
KATNAL2     Leuven_408971chr18:
44595922-44595922		CTexonicUnknownnonsynonymous SNVNM_031303c.C743Tp.A248V35.02.0E-4Wang2020 T
KATNAL2     Gecz4_49246chr18:
44595922-44595922		CTexonicUnknownnonsynonymous SNVNM_031303c.C743Tp.A248V35.02.0E-4Wang2020 T
KATNAL2     5929chr18:
44603833-44603833		GCsplicingDe novosplicing16.29-Fu2022 E
Trost2022 G
KATNAL2     11008_p1chr18:
44589733-44589733		GAsplicingDe novosplicing21.7-Fu2022 E
KATNAL2     AU1987301chr18:
44545012-44545012		AGintronicDe novo--Yuen2017 G
KATNAL2     GX0555.p1chr18:
44595645-44595645		GAexonicPaternalnonsynonymous SNVNM_031303c.G664Ap.G222S35.08.283E-6Guo2018 T
KATNAL2     mAGRE2478chr18:
44589434-44589435		ACAexonicMaternalframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Cirnigliaro2023 G
KATNAL2     mAGRE2477chr18:
44589434-44589435		ACAexonicMaternalframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Cirnigliaro2023 G
KATNAL2     AU4234302chr18:
44584649-44584649		CTexonicMaternalstopgainNM_031303c.C160Tp.Q54X37.02.475E-5Cirnigliaro2023 G
KATNAL2     AU4122301chr18:
44535095-44535095		TCintronicDe novo--Yuen2017 G
KATNAL2     AU062204chr18:
44552013-44552013		CTintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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URL
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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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