Variant Results

or

Results for "TTC39A"

Variant Events: 20

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

TTC39A

mAGRE2751

chr1:
51754583-51754585

AGG

A

exonic

Maternal

frameshift deletion

NM_001297667
NM_001297666
NM_001080494
NM_001144832
NM_001297663
NM_001297664
NM_001297665

c.267_268del
c.468_469del
c.1539_1540del
c.1548_1549del
c.1536_1537del
c.1455_1456del
c.1644_1645del

p.A89fs
p.A156fs
p.A513fs
p.A516fs
p.A512fs
p.A485fs
p.A548fs

-

Cirnigliaro2023 G

TTC39A

mAGRE2039

chr1:
51753954-51753954

T

A

splicing

Maternal

splicing

24.2

8.287E-6

Cirnigliaro2023 G

TTC39A

mAGRE2036

chr1:
51753954-51753954

T

A

splicing

Maternal

splicing

24.2

8.287E-6

Cirnigliaro2023 G

TTC39A

11229.p1

chr1:
51770838-51770838

C

A

intronic

De novo

-

2.0E-4

Satterstrom2020 E

TTC39A

1-0304-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TTC39A

5-0076-003

chr1:
51752544-51752544

A

G

downstream

De novo

-

Trost2022 G

TTC39A

SP0077388

chr1:
51778437-51778437

C

T

intronic

De novo

-

Fu2022 E

TTC39A

6244

chr1:
51770838-51770838

C

A

intronic

De novo

-

2.0E-4

Trost2022 G

TTC39A

AU4159302

chr1:
51768347-51768347

C

T

intronic

De novo

-

Trost2022 G

TTC39A

AU3343301

chr1:
51804021-51804021

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTC39A

SP0048394

chr1:
51767982-51767982

G

T

intronic

11.97

-

Zhou2022 GE

TTC39A

iHART2036

chr1:
51753954-51753954

T

A

splicing

Maternal

splicing

24.2

8.287E-6

Ruzzo2019 G

TTC39A

5922

chr1:
51768226-51768226

G

A

exonic

De novo

synonymous SNV

NM_001080494
NM_001144832
NM_001297662
NM_001297663
NM_001297664
NM_001297665

c.C786T
c.C795T
c.C888T
c.C783T
c.C702T
c.C891T

p.I262I
p.I265I
p.I296I
p.I261I
p.I234I
p.I297I

-

5.795E-5

Fu2022 E
Trost2022 G

TTC39A

iHART2751

chr1:
51754583-51754585

AGG

A

exonic

Maternal

frameshift deletion

NM_001297667
NM_001297666
NM_001080494
NM_001144832
NM_001297663
NM_001297664
NM_001297665

c.267_268del
c.468_469del
c.1539_1540del
c.1548_1549del
c.1536_1537del
c.1455_1456del
c.1644_1645del

p.A89fs
p.A156fs
p.A513fs
p.A516fs
p.A512fs
p.A485fs
p.A548fs

-

Ruzzo2019 G

TTC39A

iHART2039

chr1:
51753954-51753954

T

A

splicing

Maternal

splicing

24.2

8.287E-6

Ruzzo2019 G

TTC39A

MSSNG00106-003

chr1:
51774175-51774175

G

A

intronic

De novo

-

Trost2022 G

TTC39A

MT_73.3

chr1:
51773618-51773618

T

C

intronic

De novo

-

Trost2022 G

TTC39A

DEASD_0407_001

chr1:
51771704-51771704

T

C

exonic

De novo

nonsynonymous SNV

NM_001080494
NM_001144832
NM_001297662
NM_001297663
NM_001297664
NM_001297665

c.A536G
c.A545G
c.A638G
c.A533G
c.A452G
c.A641G

p.E179G
p.E182G
p.E213G
p.E178G
p.E151G
p.E214G

9.726

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TTC39A

12185.p1

chr1:
51768226-51768226

G

A

exonic

De novo

synonymous SNV

NM_001080494
NM_001144832
NM_001297662
NM_001297663
NM_001297664
NM_001297665

c.C786T
c.C795T
c.C888T
c.C783T
c.C702T
c.C891T

p.I262I
p.I265I
p.I296I
p.I261I
p.I234I
p.I297I

-

5.795E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TTC39A

7-0130-003

chr1:
51815140-51815140

C

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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