Variant Results

or

Results for "TTC3"

Variant Events: 31

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

TTC3

mAGRE4507

chr21:
38480740-38480740

G

A

exonic

Paternal

stopgain

NM_001001894
NM_003316

c.G894A
c.G894A

p.W298X
p.W298X

38.0

-

Cirnigliaro2023 G

TTC3

iHART2468

chr21:
38463698-38463703

ATTTTC

A

exonic

Paternal

frameshift deletion

NM_001001894
NM_003316

c.587_591del
c.587_591del

p.I196fs
p.I196fs

-

Ruzzo2019 G

TTC3

mAGRE2468

chr21:
38463698-38463703

ATTTTC

A

exonic

Paternal

frameshift deletion

NM_001001894
NM_003316

c.587_591del
c.587_591del

p.I196fs
p.I196fs

-

Cirnigliaro2023 G

TTC3

mAGRE5399

chr21:
38463591-38463591

A

G

splicing

Maternal

splicing

17.59

-

Cirnigliaro2023 G

TTC3

1-0597-003

chr21:
38470570-38470570

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTC3

AU3809302

chr21:
38510064-38510064

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTC3

MCD-017-3

chr21:
38568183-38568183

C

T

exonic

Paternal

nonsynonymous SNV

NM_001001894
NM_003316

c.C5425T
c.C5425T

p.R1809W
p.R1809W

15.32

3.0E-4

Tuncay2023 G

TTC3

2-1176-003

chr21:
38556813-38556813

A

G

intronic

De novo

-

Yuen2017 G

TTC3

PN400470

chr21:
38529482-38529482

G

A

intronic

Unknown

14.17

0.0081

Leblond2019 E

TTC3

SP0086279

chr21:
38538470-38538470

T

C

exonic

De novo

synonymous SNV

NM_001001894
NM_003316

c.T3954C
c.T3954C

p.C1318C
p.C1318C

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TTC3

SP0077038

chr21:
38495205-38495205

G

A

intronic

De novo

-

Fu2022 E

TTC3

AU3724302

chr21:
38539917-38539917

C

T

exonic

Maternal

stopgain

NM_001001894
NM_003316

c.C4462T
c.C4462T

p.R1488X
p.R1488X

51.0

1.665E-5

Cirnigliaro2023 G

TTC3

SP0016839

chr21:
38538631-38538631

T

TAGC

exonic

De novo

nonframeshift insertion

NM_001001894
NM_003316

c.4115_4116insAGC
c.4115_4116insAGC

p.V1372delinsVA
p.V1372delinsVA

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TTC3

AU3724301

chr21:
38539917-38539917

C

T

exonic

Maternal

stopgain

NM_001001894
NM_003316

c.C4462T
c.C4462T

p.R1488X
p.R1488X

51.0

1.665E-5

Cirnigliaro2023 G

TTC3

PN400157

chr21:
38529482-38529482

G

A

intronic

Unknown

14.17

0.0081

Leblond2019 E

TTC3

PN400267

chr21:
38529482-38529482

G

A

intronic

Unknown

14.17

0.0081

Leblond2019 E

TTC3

SP0016737

chr21:
38520846-38520846

G

T

exonic

De novo

nonsynonymous SNV

NM_001001894
NM_003316

c.G2017T
c.G2017T

p.G673C
p.G673C

18.4

-

Trost2022 G

TTC3

MT_95.3

chr21:
38466619-38466619

T

C

intronic

De novo

-

Trost2022 G

TTC3

1-0092-003

chr21:
38566231-38566231

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTC3

08C72821

chr21:
38568287-38568287

G

A

exonic

De novo

synonymous SNV

NM_001001894
NM_003316

c.G5529A
c.G5529A

p.P1843P
p.P1843P

3.484

8.268E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TTC3

1-0400-003

chr21:
38536170-38536170

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TTC3

SP0237096

chr21:
38570203-38570203

G

T

exonic

De novo

nonsynonymous SNV

NM_001001894
NM_003316

c.G5727T
c.G5727T

p.K1909N
p.K1909N

14.32

-

Trost2022 G

TTC3

1-1122-003

chr21:
38540384-38540384

T

C

intronic

De novo

-

Trost2022 G

TTC3

PN400102

chr21:
38529482-38529482

G

A

intronic

Unknown

14.17

0.0081

Leblond2019 E

TTC3

13323.p1

chr21:
38567961-38567961

G

A

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E
Trost2022 G

TTC3

AU3811305

chr21:
38471811-38471811

G

A

intronic

De novo

-

Yuen2017 G

TTC3

PN400431

chr21:
38529482-38529482

G

A

intronic

Unknown

14.17

0.0081

Leblond2019 E

TTC3

AU065807

chr21:
38574604-38574604

C

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

TTC3

PN400287

chr21:
38529482-38529482

G

A

intronic

Unknown

14.17

0.0081

Leblond2019 E

TTC3

PN400576

chr21:
38529482-38529482

G

A

intronic

Unknown

14.17

0.0081

Leblond2019 E

TTC3

MCD-017-3

chr21:
38538565-38538565

C

T

exonic

Maternal

nonsynonymous SNV

NM_001001894
NM_003316

c.C4049T
c.C4049T

p.T1350I
p.T1350I

18.19

1.647E-5

Tuncay2023 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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