Variant Results

or

Results for "CHTF18"

Variant Events: 11

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

CHTF18

SAGA-84

chr16:
840270-840270

G

A

splicing

9.728

8.74E-5

Doan2019 E

CHTF18

SP0016671

chr16:
842222-842222

A

T

splicing

De novo

splicing

12.61

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

CHTF18

08C74395

chr16:
845288-845288

G

A

exonic

De novo

nonsynonymous SNV

NM_022092

c.G2107A

p.V703M

17.2

4.975E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CHTF18

TRE_1937

chr16:
847688-847688

C

A

intronic

De novo

-

Fu2022 E

CHTF18

Disecmas_014P

chr16:
843140-843140

C

G

intronic

De novo

-

4.195E-5

Fu2022 E

CHTF18

SAGA-84

chr16:
842786-842786

C

A

exonic

stopgain

NM_022092

c.C1547A

p.S516X

26.0

-

Doan2019 E

CHTF18

06C59668

chr16:
841318-841318

T

C

exonic

De novo

nonsynonymous SNV

NM_022092

c.T1052C

p.L351P

13.99

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CHTF18

SP0151003

chr16:
839228-839228

C

T

exonic

De novo

nonsynonymous SNV

NM_022092

c.C305T

p.P102L

6.599

-

Trost2022 G

CHTF18

091-05-102949

chr16:
846994-846994

C

T

exonic

De novo

synonymous SNV

NM_022092

c.C2635T

p.L879L

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CHTF18

SP0038562

chr16:
845760-845760

C

T

exonic

De novo

nonsynonymous SNV

NM_022092

c.C2251T

p.R751W

5.477

3.0E-4

Fu2022 E
Zhou2022 GE

CHTF18

Cukier2014:18074

chr16:
845754-845754

C

T

exonic

Unknown

nonsynonymous SNV

NM_022092

c.C2245T

p.R749C

14.57

0.0122

Cukier2014 E

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
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