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Results for "LZTR1"

Variant Events: 24

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
LZTR1     Krgovic2022:029613chr22:
21342349-21342349		GAexonicDe novononsynonymous SNVNM_006767c.G451Ap.D151N35.0-Krgovic2022 E
LZTR1     13016.p1chr22:
21350080-21350080		GTexonicDe novononsynonymous SNVNM_006767c.G1988Tp.G663V19.83-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
LZTR1     SP0018301chr22:
21348492-21348492		GTexonicDe novostopgainNM_006767c.G1549Tp.E517X43.0-Feliciano2019 E
Fu2022 E
LZTR1     Krgovic2022:029613chr22:
21348903-21348903		CTexonicMaternalstopgainNM_006767c.C1672Tp.Q558X41.0-Krgovic2022 E
LZTR1     219-2267-1chr22:
21348255-21348255		CTexonicUnknownnonsynonymous SNVNM_006767c.C1396Tp.R466W20.97.537E-5Stessman2017 T
LZTR1     M02433chr22:
21348884-21348884		CAexonicPaternalstopgainNM_006767c.C1653Ap.Y551X41.0-Guo2018 T
LZTR1     JASD_Fam0172chr22:
21345975-21345975		CTexonicDe novononsynonymous SNVNM_006767c.C850Tp.R284C23.9-Takata2018 E
LZTR1     SSC06405chr22:
21350080-21350080		GTexonicDe novononsynonymous SNVNM_006767c.G1988Tp.G663V19.83-Fu2022 E
Lim2017 E
LZTR1     219-2303-1chr22:
21348250-21348251		CAAexonicMaternalframeshift deletionNM_006767c.1391delCp.T464fs--Stessman2017 T
LZTR1     Mahjani2021:121chr22:
21341837-21341837		CAexonicstopgainNM_006767c.C365Ap.S122X41.0-Mahjani2021 E
LZTR1     M03523chr22:
21350271-21350271		CTexonicUnknownnonsynonymous SNVNM_006767c.C2089Tp.R697W34.02.482E-5Guo2018 T
LZTR1     219-2300-1chr22:
21346615-21346628		TTGGCACCACCTCAAexonicInheritedframeshift deletionNM_006767c.1106_1118delp.F369fs--Stessman2017 T
LZTR1     Z8R7Tchr22:
21351525-21351526		CCCCCexonicInheritedframeshift insertionNM_006767c.2412dupCp.S804fs--Stessman2017 T
LZTR1     Z9J9Fchr22:
21348845-21348846		AGCCsplicingInheritedsplicing--Stessman2017 T
LZTR1     219-2306-1chr22:
21344754-21344754		CTexonicUnknownnonsynonymous SNVNM_006767c.C731Tp.S244F29.7-Stessman2017 T
LZTR1     GX0502.p1chr22:
21341862-21341862		GGTexonicMaternalframeshift insertionNM_006767c.391dupTp.M130fs--Guo2018 T
LZTR1     GX0382.p1chr22:
21350286-21350287		GAGexonicMaternalframeshift deletionNM_006767c.2105delAp.E702fs--Guo2018 T
LZTR1     GX0427.p1chr22:
21351585-21351585		TCexonicPaternalnonsynonymous SNVNM_006767c.T2471Cp.L824P31.01.655E-5Guo2018 T
LZTR1     GX0374.p1chr22:
21343116-21343116		ATexonicPaternalnonsynonymous SNVNM_006767c.A548Tp.Y183F32.08.247E-6Guo2018 T
LZTR1     SP0035120chr22:
21342331-21342331		AGexonicDe novononsynonymous SNVNM_006767c.A433Gp.N145D31.0-Fu2022 E
LZTR1     iHART1483chr22:
21348560-21348560		TCsplicingMaternalsplicing16.97-Ruzzo2019 G
LZTR1     CC1144_201chr22:
21346582-21346582		TGexonicDe novononsynonymous SNVNM_006767c.T1073Gp.F358C11.36-Fu2022 E
LZTR1     7-0148-003chr22:
21343923-21343923		CTexonicDe novosynonymous SNVNM_006767c.C603Tp.D201D--Yuen2017 G
LZTR1     NP185chr22:
21345975-21345975		CTexonicDe novononsynonymous SNVNM_006767c.C850Tp.R284C23.9-Fu2022 E
Satterstrom2020 E
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
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