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Results for "LMTK3"

Variant Events: 20

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
LMTK3     13092.p1 Complex Event; expand row to view variants  De novoframeshift insertion, stopgainNM_001080434
NM_001080434
c.920_921insCTGACCT
c.919_920insCTGACCT
p.L307_T308delinsLX
p.L307fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
LMTK3     SSC00604chr19:
49002894-49002894
CGexonicDe novononsynonymous SNVNM_001080434c.G1519Cp.E507Q20.5-Trost2022 G
LMTK3     7-0254-004chr19:
49040430-49040440
TTGTAGCGATGTTGintergenicDe novo--Yuen2017 G
LMTK3     mAGRE5905chr19:
49001774-49001776
GGCGexonicMaternalframeshift deletionNM_001080434c.2637_2638delp.K879fs--Cirnigliaro2023 G
LMTK3     mAGRE5904chr19:
49001774-49001776
GGCGexonicMaternalframeshift deletionNM_001080434c.2637_2638delp.K879fs--Cirnigliaro2023 G
LMTK3     SP0275355chr19:
49002845-49002845
GGCexonicframeshift insertionNM_001080434c.1567dupGp.A523fs--Zhou2022 GE
LMTK3     SP0148527chr19:
48994467-48994467
GAexonicnonsynonymous SNVNM_001080434c.C4351Tp.L1451F15.8-Zhou2022 GE
LMTK3     14110.p1chr19:
49005717-49005717
TCexonicnonsynonymous SNVNM_001080434c.A854Gp.H285R23.4-Zhou2022 GE
LMTK3     11641.p1chr19:
49002894-49002894
CGexonicDe novononsynonymous SNVNM_001080434c.G1519Cp.E507Q20.5-Satterstrom2020 E
Zhou2022 GE
LMTK3     SP0131889chr19:
49000853-49000853
GCexonicnonsynonymous SNVNM_001080434c.C3560Gp.P1187R10.621.0E-4Zhou2022 GE
LMTK3     SSC06524chr19:
49004780-49004780
CCAGGTCAGexonicDe novostopgainNM_001080434c.920_921insCTGACCTp.L307_T308delinsLX--Fu2022 E
Trost2022 G
LMTK3     SP0137393chr19:
49005723-49005723
AGexonicDe novononsynonymous SNVNM_001080434c.T848Cp.L283P23.9-Fu2022 E
Zhou2022 GE
LMTK3     ASC_11411-1chr19:
49002425-49002426
GTGexonicDe novoframeshift deletionNM_001080434c.1987delAp.T663fs--Fu2022 E
LMTK3     SP0078088chr19:
49003148-49003148
CTexonicDe novononsynonymous SNVNM_001080434c.G1265Ap.R422Q13.898.666E-5Fu2022 E
Zhou2022 GE
LMTK3     2-0304-004chr19:
49016530-49016531
TATupstreamDe novo--Yuen2017 G
LMTK3     SP0138024chr19:
48996863-48996863
CTintronicDe novo--Fu2022 E
LMTK3     SP0167704chr19:
49006182-49006182
ACexonicnonsynonymous SNVNM_001080434c.T716Gp.M239R18.04-Zhou2022 GE
LMTK3     JASD_Fam0031chr19:
48997134-48997134
GAexonicDe novosynonymous SNVNM_001080434c.C3996Tp.P1332P--Takata2018 E
LMTK3     JASD_Fam0031chr19:
48997119-48997119
TAexonicDe novosynonymous SNVNM_001080434c.A4011Tp.A1337A--Takata2018 E
LMTK3     1-0590-003chr19:
49002675-49002676
GCGexonicDe novoframeshift deletionNM_001080434c.1737delGp.E579fs--Yuen2017 G
Zhou2022 GE
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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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