Variant Results

or

or

Results for "FAM120B"

Variant Events: 22

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

FAM120B

1-0551-004

chr6:
170734974-170734974

A

G

intergenic

De novo

-

-

Yuen2017 G

FAM120B

AU050910

chr6:
170708454-170708454

G

A

intronic

De novo

-

-

Yuen2017 G

FAM120B

SP0043516

chr6:
170627540-170627546

CATGTGT

C

exonic

De novo

nonframeshift deletion

NM_001286379
NM_001286380
NM_032448

c.1099_1104del
c.1132_1137del
c.1063_1068del

p.367_368del
p.378_379del
p.355_356del

-

Fu2022 E

FAM120B

2-1215-003

chr6:
170700344-170700344

C

T

intronic

De novo

-

-

Yuen2017 G

FAM120B

2-1254-003

chr6:
170810745-170810745

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

FAM120B

13499.p1

chr6:
170627691-170627691

T

A

exonic

De novo

nonsynonymous SNV

NM_001286379
NM_001286380
NM_032448

c.T1249A
c.T1282A
c.T1213A

p.S417T
p.S428T
p.S405T

0.01

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

FAM120B

3-0458-000A

chr6:
170615391-170615391

C

A

intronic

De novo

-

-

Yuen2017 G

FAM120B

AU2292302

chr6:
170708856-170708856

A

G

intronic

De novo

-

-

Yuen2017 G

FAM120B

AU4015302

chr6:
170714765-170714765

A

C

UTR3

De novo

-

-

Yuen2017 G

FAM120B

10C117939

chr6:
170627963-170627963

A

C

exonic

De novo

nonsynonymous SNV

NM_001286379
NM_001286380
NM_032448

c.A1521C
c.A1554C
c.A1485C

p.Q507H
p.Q518H
p.Q495H

10.89

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

FAM120B

3-0428-000

chr6:
170728360-170728360

A

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

FAM120B

2-1244-003

chr6:
170804952-170804952

A

T

intergenic

De novo

-

-

Yuen2017 G

FAM120B

7-0024-003

chr6:
170761934-170761934

A

AGAGTGTGTGAGTAGGAGAGAGG

intergenic

De novo

-

-

Yuen2017 G

FAM120B

3-0314-000

chr6:
170632250-170632250

C

G

exonic

De novo

synonymous SNV

NM_001286379
NM_001286380
NM_032448

c.C1854G
c.C1887G
c.C1818G

p.T618T
p.T629T
p.T606T

-

-

Tammimies2015 E

FAM120B

1-0214-003

chr6:
170780420-170780420

G

A

intergenic

De novo

-

-

Yuen2017 G

FAM120B

2-1480-003

chr6:
170707484-170707484

G

A

intronic

De novo

-

-

Yuen2017 G

FAM120B

2-1720-003

chr6:
170798640-170798640

C

T

intergenic

De novo

-

-

Yuen2017 G

FAM120B

AU2525302

chr6:
170824537-170824537

C

T

intergenic

De novo

-

-

Yuen2017 G

FAM120B

1-0595-005

chr6:
170639119-170639119

A

G

intronic

De novo

-

-

Yuen2017 G

FAM120B

2-1442-003

chr6:
170633223-170633223

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

FAM120B

3-0458-000B

chr6:
170615391-170615391

C

A

intronic

De novo

-

-

Yuen2017 G

FAM120B

1-0469-003

chr6:
170606556-170606556

A

G

intronic

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
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