Variant Results

or

Results for "CEP170B"

Variant Events: 24

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

CEP170B

2-1815-003

chr14:
105352927-105352927

G

A

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.G2141A
c.G2351A

p.R714H
p.R784H

1.358

3.243E-5

Trost2022 G
Zhou2022 GE

CEP170B

5-0106-003

chr14:
105380179-105380179

G

A

intergenic

De novo

-

Yuen2017 G

CEP170B

Wang2023:295

chr14:
105350168-105350168

G

C

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.G842C
c.G1052C

p.G281A
p.G351A

19.61

-

Wang2023 E

CEP170B

2-1291-003

chr14:
105354151-105354151

G

A

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.G3365A
c.G3575A

p.R1122H
p.R1192H

16.31

1.0E-4

Jiang2013 G
Yuen2016 G

CEP170B

3D630

chr14:
105350929-105350929

G

GA

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CEP170B

5-0083-003

chr14:
105348753-105348753

G

A

intronic

De novo

-

Yuen2017 G

CEP170B

13808.p1

chr14:
105351707-105351707

T

G

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.T1562G
c.T1772G

p.V521G
p.V591G

17.89

-

Satterstrom2020 E

CEP170B

08C74732

chr14:
105350824-105350824

T

A

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.T1498A
c.T1708A

p.Y500N
p.Y570N

17.69

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CEP170B

14076.p1

chr14:
105354158-105354158

C

G

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.C3372G
c.C3582G

p.S1124R
p.S1194R

10.66

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CEP170B

09C99833

chr14:
105354151-105354151

G

A

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.G3365A
c.G3575A

p.R1122H
p.R1192H

16.31

1.0E-4

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CEP170B

2-1269-003

chr14:
105346547-105346547

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CEP170B

SP0080918

chr14:
105351949-105351949

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

CEP170B

1-0562-003

chr14:
105361829-105361835

CTGGTGG

AT

UTR3

De novo

-

Trost2022 G

CEP170B

1-0452-003

chr14:
105353348-105353348

G

A

exonic

De novo

synonymous SNV

NM_015005
NM_001112726

c.G2562A
c.G2772A

p.L854L
p.L924L

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

CEP170B

SP0046890

chr14:
105353924-105353924

C

A

exonic

De novo

synonymous SNV

NM_015005
NM_001112726

c.C3138A
c.C3348A

p.S1046S
p.S1116S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CEP170B

14076_p1

chr14:
105354158-105354158

C

G

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.C3372G
c.C3582G

p.S1124R
p.S1194R

10.66

-

Fu2022 E

CEP170B

2-1258-003

chr14:
105354028-105354028

A

G

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.A3242G
c.A3452G

p.E1081G
p.E1151G

16.25

-

Trost2022 G

CEP170B

MSSNG00377-003

chr14:
105357424-105357424

T

G

intronic

De novo

-

Trost2022 G

CEP170B

SSC09492

chr14:
105351707-105351707

T

G

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.T1562G
c.T1772G

p.V521G
p.V591G

17.89

-

Trost2022 G

CEP170B

1057_17au

chr14:
105344683-105344683

C

T

intronic

De novo

-

Fu2022 E

CEP170B

2-1408-003

chr14:
105354028-105354028

A

G

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.A3242G
c.A3452G

p.E1081G
p.E1151G

16.25

-

Trost2022 G

CEP170B

mAGRE4979

chr14:
105353980-105353980

C

A

exonic

Maternal

stopgain

NM_015005
NM_001112726

c.C3194A
c.C3404A

p.S1065X
p.S1135X

42.0

-

Cirnigliaro2023 G

CEP170B

SP0065253

chr14:
105350241-105350241

G

C

exonic

De novo

synonymous SNV

NM_015005
NM_001112726

c.G915C
c.G1125C

p.V305V
p.V375V

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CEP170B

Wang2023:281

chr14:
105353608-105353608

A

G

exonic

De novo

nonsynonymous SNV

NM_015005
NM_001112726

c.A2822G
c.A3032G

p.Q941R
p.Q1011R

0.032

-

Wang2023 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
Curation notes	View
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