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Results for "METTL14"

Variant Events: 9

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
METTL14     150477chr4:
119609128-119609128
TAexonicDe novononsynonymous SNVNM_020961c.T117Ap.D39E15.93-Fu2022 E
METTL14     MSSNG00431-003chr4:
119626938-119626938
GAexonicDe novononsynonymous SNVNM_020961c.G1028Ap.R343H27.48.326E-6Trost2022 G
Zhou2022 GE
METTL14     2-1625-003chr4:
119619586-119619586
CTintronicDe novo--Trost2022 G
METTL14     09C95782chr4:
119626841-119626841
AGexonicDe novononsynonymous SNVNM_020961c.A931Gp.I311V20.9-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
METTL14     iHART1536chr4:
119625089-119625089
GTsplicingPaternalsplicing22.0-Ruzzo2019 G
METTL14     SMHC01971sfs0chr4:
119631333-119631333
GAexonicDe novononsynonymous SNVNM_020961c.G1247Ap.G416E22.3-Yuan2023 E
METTL14     MSSNG00033-004chr4:
119610470-119610470
AGintronicDe novo--Trost2022 G
METTL14     1-0556-003chr4:
119608631-119608631
AGintronicDe novo--Trost2022 G
Yuen2017 G
METTL14     mAGRE1536chr4:
119625089-119625089
GTsplicingPaternalsplicing22.0-Cirnigliaro2023 G
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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