Variant Results

or

Results for "METTL16"

Variant Events: 15

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

2-1223-003

chr17:
2385797-2385797

G

A

intronic

De novo

-

Yuen2017 G

METTL16

1-0555-003

chr17:
2354294-2354294

A

G

intronic

De novo

-

Yuen2017 G

METTL16

2-1370-003

chr17:
2346649-2346649

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

METTL16

10C108981

chr17:
2371131-2371131

A

G

exonic

De novo

nonsynonymous SNV

NM_024086

c.T509C

p.L170P

22.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

METTL16

1-0627-005

chr17:
2324581-2324581

C

T

intronic

De novo

-

Yuen2017 G

METTL16

2-0286-004

chr17:
2323790-2323790

C

T

exonic

De novo

nonsynonymous SNV

NM_024086

c.G1163A

p.R388H

20.2

-

Yuen2015 G
Yuen2017 G

METTL16

2-1252-003

chr17:
2469027-2469027

C

CA

intergenic

De novo

-

Yuen2017 G

METTL16

AU2458303

chr17:
2449776-2449779

GGGC

G

intergenic

De novo

-

Yuen2017 G

METTL16

1-0403-003

chr17:
2361775-2361775

G

C

intronic

De novo

-

Yuen2017 G

METTL16

12529.p1

chr17:
2377704-2377704

T

A

intronic

De novo

-

Turner2016 G

METTL16

AU045514

chr17:
2376824-2376824

T

C

exonic

De novo

nonsynonymous SNV

NM_024086

c.A463G

p.I155V

18.53

-

Yuen2017 G

METTL16

SP0038016

chr17:
2367447-2367447

G

A

intronic

De novo

-

Fu2022 E

METTL16

AU3610302

chr17:
2323779-2323779

G

A

exonic

De novo

synonymous SNV

NM_024086

c.C1174T

p.L392L

-

Yuen2017 G

METTL16

AU4072303

chr17:
2366622-2366622

G

A

intronic

De novo

-

Yuen2017 G

METTL16

5-0128-003

chr17:
2468806-2468806

C

G

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
	More