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Results for "METTL16"

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
METTL16     2-1223-003chr17:
2385797-2385797
GAintronicDe novo--Yuen2017 G
METTL16     1-0555-003chr17:
2354294-2354294
AGintronicDe novo--Yuen2017 G
METTL16     2-1370-003chr17:
2346649-2346649
TCintronicDe novo--Yuen2016 G
Yuen2017 G
METTL16     10C108981chr17:
2371131-2371131
AGexonicDe novononsynonymous SNVNM_024086c.T509Cp.L170P22.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
METTL16     1-0627-005chr17:
2324581-2324581
CTintronicDe novo--Yuen2017 G
METTL16     2-0286-004chr17:
2323790-2323790
CTexonicDe novononsynonymous SNVNM_024086c.G1163Ap.R388H20.2-Yuen2015 G
Yuen2017 G
METTL16     2-1252-003chr17:
2469027-2469027
CCAintergenicDe novo--Yuen2017 G
METTL16     AU2458303chr17:
2449776-2449779
GGGCGintergenicDe novo--Yuen2017 G
METTL16     1-0403-003chr17:
2361775-2361775
GCintronicDe novo--Yuen2017 G
METTL16     12529.p1chr17:
2377704-2377704
TAintronicDe novo--Turner2016 G
METTL16     AU045514chr17:
2376824-2376824
TCexonicDe novononsynonymous SNVNM_024086c.A463Gp.I155V18.53-Yuen2017 G
METTL16     AU3610302chr17:
2323779-2323779
GAexonicDe novosynonymous SNVNM_024086c.C1174Tp.L392L--Yuen2017 G
METTL16     AU4072303chr17:
2366622-2366622
GAintronicDe novo--Yuen2017 G
METTL16     5-0128-003chr17:
2468806-2468806
CGintergenicDe novo--Yuen2017 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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