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Results for "KATNAL2"

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
KATNAL2     AU059903chr18:
44589434-44589435
ACAexonicUnknown, De novoframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
KATNAL2     Lim2017:5929chr18:
44603833-44603833
GCsplicingDe novosplicing16.29-Lim2017 E
KATNAL2     404chr18:
44603829-44603829
CTexonicMaternalnonsynonymous SNVNM_031303c.C992Tp.P331L21.1-Wang2020 T
Wang2020 T
KATNAL2     AU2427302chr18:
44545012-44545012
AGintronicDe novo--Yuen2017 G
KATNAL2     AU4336301chr18:
44541666-44541666
GAintronicDe novo--Yuen2017 G
KATNAL2     214-17045-1chr18:
44595969-44595969
CTexonicUnknownnonsynonymous SNVNM_031303c.C790Tp.R264W17.05-Stessman2017 T
Wang2020 T
Wang2020 T
KATNAL2     286873chr18:
44625759-44625759
TAexonicUnknownnonsynonymous SNVNM_031303c.T1141Ap.Y381N20.5-Wang2020 T
Wang2020 T
KATNAL2     215-13026-0333chr18:
44603744-44603744
CTexonicUnknownnonsynonymous SNVNM_031303c.C907Tp.R303W17.912.473E-5Stessman2017 T
Wang2020 T
Wang2020 T
KATNAL2     210-18162-301chr18:
44601726-44601726
GTexonicUnknownnonsynonymous SNVNM_031303c.G871Tp.G291C22.42.917E-5Stessman2017 T
Wang2020 T
Wang2020 T
KATNAL2     1-0559-005chr18:
44602617-44602617
CTintronicDe novo--Yuen2017 G
KATNAL2     2-1363-003chr18:
44548170-44548170
TCintronicDe novo--Yuen2017 G
KATNAL2     BK800-01chr18:
44589434-44589435
ACAexonicMaternalframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Wang2020 T
Wang2020 T
KATNAL2     Uddin2014:18chr18:
44603833-44603833
GCsplicingDe novosplicing16.29-Uddin2014 E
KATNAL2     M31953chr18:
44595645-44595645
GAexonicMaternalnonsynonymous SNVNM_031303c.G664Ap.G222S35.08.283E-6Guo2018 T
Wang2020 T
Wang2020 T
KATNAL2     SX0025.p1chr18:
44595640-44595640
TCexonicUnknownnonsynonymous SNVNM_031303c.T659Cp.L220P24.0-Wang2020 T
Wang2020 T
KATNAL2     106967-100chr18:
44601667-44601667
GAexonicUnknownnonsynonymous SNVNM_031303c.G812Ap.R271H22.93.0E-4Wang2020 T
Wang2020 T
Wang2020 T
KATNAL2     HEN0368.p1chr18:
44625715-44625715
CTexonicUnknownnonsynonymous SNVNM_031303c.C1097Tp.P366L19.94-Wang2020 T
Wang2020 T
KATNAL2     7-0008-003chr18:
44535518-44535518
TCintronicDe novo--Yuen2017 G
KATNAL2     2-1251-003chr18:
44601851-44601851
TCintronicDe novo--Yuen2017 G
KATNAL2     210-18162-302chr18:
44601726-44601726
GTexonicUnknownnonsynonymous SNVNM_031303c.G871Tp.G291C22.42.917E-5Wang2020 T
Wang2020 T
Wang2020 T
KATNAL2     iHART2477chr18:
44589434-44589435
ACAexonicMaternalframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Ruzzo2019 G
KATNAL2     M26907chr18:
44625645-44625645
GTexonicUnknownstopgainNM_031303c.G1027Tp.E343X38.02.491E-5Wang2020 T
Wang2020 T
KATNAL2     iHART3295chr18:
44584649-44584649
CTexonicMaternalstopgainNM_031303c.C160Tp.Q54X37.02.475E-5Ruzzo2019 G
KATNAL2     GD0099.p1chr18:
44586020-44586020
CTexonicUnknownstopgainNM_031303c.C328Tp.R110X20.71.0E-4Wang2020 T
Wang2020 T
KATNAL2     11008.p1chr18:
44589733-44589733
GAsplicingDe novosplicing21.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Sanders2012 E
Wang2020 T
Willsey2013 E
KATNAL2     AU1987301chr18:
44545012-44545012
AGintronicDe novo--Yuen2017 G
KATNAL2     11872.p1chr18:
44603833-44603833
GCsplicingDe novosplicing16.29-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
KATNAL2     iHART2478chr18:
44589434-44589435
ACAexonicMaternalframeshift deletionNM_031303c.426delCp.D142fs-1.649E-5Ruzzo2019 G
KATNAL2     GX0555.p1chr18:
44595645-44595645
GAexonicPaternal, Unknownnonsynonymous SNVNM_031303c.G664Ap.G222S35.08.283E-6Guo2018 T
Wang2020 T
Wang2020 T
Wang2020 T
KATNAL2     103532-100chr18:
44626680-44626680
TGexonicUnknownnonsynonymous SNVNM_031303c.T1214Gp.M405R22.48.246E-6Wang2020 T
Wang2020 T
KATNAL2     220-9942-201chr18:
44601667-44601667
GAexonicUnknownnonsynonymous SNVNM_031303c.G812Ap.R271H22.93.0E-4Wang2020 T
Wang2020 T
KATNAL2     215-13146-1633chr18:
44580782-44580783
CGCexonicPaternalframeshift deletionNM_031303c.90delGp.P30fs--Wang2020 T
Wang2020 T
KATNAL2     HEN0151.p1chr18:
44625645-44625645
GTexonicUnknownstopgainNM_031303c.G1027Tp.E343X38.02.491E-5Wang2020 T
Wang2020 T
Wang2020 T
KATNAL2     GZ0014.p1chr18:
44586020-44586020
CTexonicUnknownstopgainNM_031303c.C328Tp.R110X20.71.0E-4Wang2020 T
Wang2020 T
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
Wang2020 T
Wang2020 T
KATNAL2     AU4122301chr18:
44535095-44535095
TCintronicDe novo--Yuen2017 G
KATNAL2     64642788chr18:
44593470-44593470
GAexonicUnknownnonsynonymous SNVNM_031303c.G589Ap.A197T32.0-Wang2020 T
Wang2020 T
KATNAL2     2-0022-003chr18:
44528324-44528324
CGintronicDe novo--Yuen2017 G
KATNAL2     AU062204chr18:
44552013-44552013
CTintronicDe novo--Yuen2017 G
KATNAL2     64899701chr18:
44589696-44589697
CACexonicUnknownframeshift deletionNM_031303c.475delAp.S159fs-8.247E-6Wang2020 T
Wang2020 T
KATNAL2     AU071803chr18:
44595655-44595655
GAsplicingMaternalsplicing20.5-Stessman2017 T
Wang2020 T
Wang2020 T
KATNAL2     1-1000-003chr18:
44545012-44545012
AGintronicDe novo--Yuen2017 G
KATNAL2     394775chr18:
44589658-44589658
CTexonicUnknownstopgainNM_031303c.C436Tp.R146X35.09.08E-5Wang2020 T
Wang2020 T
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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