Variant Results

or

Results for "C3orf20"

Variant Events: 28

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

C3orf20

1-0197-004

chr3:
14771821-14771821

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

C3orf20

31746

chr3:
14768527-14768527

C

T

exonic

De novo

synonymous SNV

NM_001184957
NM_001184958
NM_032137

c.C1320T
c.C1320T
c.C1686T

p.A440A
p.A440A
p.A562A

-

2.472E-5

Fu2022 E
Trost2022 G

C3orf20

SP0127452

chr3:
14803043-14803043

C

A

exonic

De novo

nonsynonymous SNV

NM_001184957
NM_001184958
NM_032137

c.C2050A
c.C2050A
c.C2416A

p.Q684K
p.Q684K
p.Q806K

10.03

-

Fu2022 E
Trost2022 G
Zhou2022 GE

C3orf20

Lim2017:31746

chr3:
14768527-14768527

C

T

exonic

De novo

synonymous SNV

NM_001184957
NM_001184958
NM_032137

c.C1320T
c.C1320T
c.C1686T

p.A440A
p.A440A
p.A562A

-

2.472E-5

Lim2017 E

C3orf20

1-0885-003

chr3:
14836314-14836314

T

C

intergenic

De novo

-

Yuen2017 G

C3orf20

14-600

chr3:
14794811-14794815

TAGGG

T

intronic

De novo

-

Trost2022 G

C3orf20

MT_25.3

chr3:
14807978-14807979

AG

A

intronic

De novo

-

Trost2022 G

C3orf20

4-0062-003

chr3:
14762218-14762219

CG

AA

intronic

De novo

-

Trost2022 G

C3orf20

4-0073-003

chr3:
14762218-14762219

CG

AA

intronic

De novo

-

Trost2022 G

C3orf20

AU031404

chr3:
14808948-14808948

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

C3orf20

5-5031-003

chr3:
14723405-14723405

A

C

intronic

De novo

-

Trost2022 G

C3orf20

4-0086-003

chr3:
14751426-14751426

T

C

intronic

De novo

-

Trost2022 G

C3orf20

iHART2645

chr3:
14731513-14731514

CA

C

exonic

Maternal

frameshift deletion

NM_001184957
NM_001184958
NM_032137

c.270delA
c.270delA
c.636delA

p.A90fs
p.A90fs
p.A212fs

-

3.295E-5

Ruzzo2019 G

C3orf20

EGAN00001101067

chr3:
14814327-14814327

C

A

exonic

De novo

nonsynonymous SNV

NM_001184957
NM_001184958
NM_032137

c.C2294A
c.C2294A
c.C2660A

p.P765H
p.P765H
p.P887H

15.35

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

C3orf20

2-1281-003

chr3:
14721641-14721641

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

C3orf20

1-0394-003

chr3:
14847940-14847940

T

C

intergenic

De novo

-

Yuen2017 G

C3orf20

5911015411597-C

chr3:
14725761-14725761

C

T

exonic

De novo

nonsynonymous SNV

NM_001184957
NM_001184958
NM_032137

c.C131T
c.C131T
c.C497T

p.P44L
p.P44L
p.P166L

18.45

-

Fu2022 E

C3orf20

1-0332-003

chr3:
14716652-14716652

T

TAGC

UTR5

De novo

-

Yuen2017 G

C3orf20

mAGRE4668

chr3:
14813573-14813573

G

C

splicing

Maternal

splicing

10.61

-

Cirnigliaro2023 G

C3orf20

mAGRE4667

chr3:
14813573-14813573

G

C

splicing

Maternal

splicing

10.61

-

Cirnigliaro2023 G

C3orf20

1-0180-004

chr3:
14816845-14816845

G

A

intergenic

De novo

-

Yuen2017 G

C3orf20

mAGRE4533

chr3:
14801441-14801441

G

GC

exonic

Paternal

frameshift insertion

NM_001184957
NM_001184958
NM_032137

c.1923dupC
c.1923dupC
c.2289dupC

p.S641fs
p.S641fs
p.S763fs

-

Cirnigliaro2023 G

C3orf20

2-1246-003

chr3:
14752370-14752370

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

C3orf20

mAGRE4532

chr3:
14801441-14801441

G

GC

exonic

Paternal

frameshift insertion

NM_001184957
NM_001184958
NM_032137

c.1923dupC
c.1923dupC
c.2289dupC

p.S641fs
p.S641fs
p.S763fs

-

Cirnigliaro2023 G

C3orf20

mAGRE2645

chr3:
14731513-14731514

CA

C

exonic

Maternal

frameshift deletion

NM_001184957
NM_001184958
NM_032137

c.270delA
c.270delA
c.636delA

p.A90fs
p.A90fs
p.A212fs

-

3.295E-5

Cirnigliaro2023 G

C3orf20

13265.p1

chr3:
14768527-14768527

C

T

exonic

De novo

synonymous SNV

NM_001184957
NM_001184958
NM_032137

c.C1320T
c.C1320T
c.C1686T

p.A440A
p.A440A
p.A562A

-

2.472E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

C3orf20

SP0032387

chr3:
14725779-14725779

G

A

exonic

De novo

nonsynonymous SNV

NM_001184957
NM_001184958
NM_032137

c.G149A
c.G149A
c.G515A

p.R50H
p.R50H
p.R172H

19.29

2.472E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

C3orf20

AU4283301

chr3:
14851218-14851218

G

A

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
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