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Results for "LMTK2"

Variant Events: 14

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
LMTK2     1-0460-003chr7:
97822154-97822154
GAexonicDe novononsynonymous SNVNM_014916c.G2377Ap.D793N11.121.649E-5Yuen2017 G
LMTK2     SJD_50chr7:
97821294-97821294
CTexonicMaternalnonsynonymous SNVNM_014916c.C1517Tp.P506L21.5-Toma2013 E
LMTK2     AU3175303chr7:
97832983-97832983
GAexonicDe novononsynonymous SNVNM_014916c.G4205Ap.R1402K19.53-Yuen2017 G
LMTK2     EGAN00001101185chr7:
97823554-97823554
GAexonicDe novosynonymous SNVNM_014916c.G3777Ap.P1259P-1.0E-4Satterstrom2020 E
LMTK2     SSC03637chr7:
97821505-97821505
GAexonicDe novononsynonymous SNVNM_014916c.G1728Ap.M576I12.35-Lim2017 E
LMTK2     2-1241-003chr7:
97800555-97800555
AGintronicDe novo--Yuen2016 G
Yuen2017 G
LMTK2     1-0401-003chr7:
97738679-97738679
TCintronicDe novo--Yuen2017 G
LMTK2     7-0127-003chr7:
97769417-97769417
TTCintronicDe novo--Yuen2017 G
LMTK2     1-0570-003chr7:
97751820-97751827
CCTCTTCTCCTintronicDe novo--Yuen2017 G
LMTK2     2-1350-004chr7:
97787947-97787947
TTAAAAAAintronicDe novo--Yuen2017 G
LMTK2     2-1350-003chr7:
97787947-97787947
TTAAAAAAintronicDe novo--Yuen2017 G
LMTK2     5-0123-003chr7:
97772853-97772853
AGintronicDe novo--Yuen2017 G
LMTK2     AU3371305chr7:
97768603-97768603
TGintronicDe novo--Yuen2017 G
LMTK2     AU138Achr7:
97816289-97816289
AGexonicDe novononsynonymous SNVNM_014916c.A977Gp.Q326R22.4-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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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