Variant Results

or

Results for "TANC2"

Variant Events: 29

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

TANC2

7-0078-003

chr17:
61488830-61488830

T

C

intronic

De novo

-

Yuen2017 G

TANC2

G01-GEA-97-HI

chr17:
61497899-61497899

C

T

exonic

De novo

nonsynonymous SNV

NM_025185

c.C4556T

p.P1519L

17.67

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

TANC2

1-0384-003

chr17:
61381503-61381503

G

A

intronic

De novo

-

Yuen2017 G

TANC2

5-0106-003

chr17:
61488720-61488720

A

G

intronic

De novo

-

Yuen2017 G

TANC2

7-0223-003

chr17:
61284066-61284066

C

T

intronic

De novo

-

Yuen2017 G

TANC2

M23654

chr17:
61497390-61497390

C

T

exonic

Inherited

synonymous SNV

NM_025185

c.C4047T

p.N1349N

-

4.469E-5

Stessman2017 T

TANC2

SSC11705

chr17:
61278319-61278319

G

A

splicing

26.8

-

Antaki2022 GE

TANC2

SP0031271

chr17:
61466092-61466092

C

T

exonic

stopgain

NM_025185

c.C2566T

p.R856X

40.0

-

Antaki2022 GE

TANC2

03C21418

chr17:
61473156-61473156

G

A

exonic

De novo

nonsynonymous SNV

NM_025185

c.G2882A

p.R961Q

36.0

3.568E-5

Stessman2017 T

TANC2

SP0019105

chr17:
61417650-61417650

C

CT

exonic

De novo

frameshift insertion

NM_025185

c.1543dupT

p.S514fs

-

Antaki2022 GE
Fu2022 E

TANC2

2-1245-003

chr17:
61364606-61364606

T

C

intronic

De novo

-

Yuen2017 G

TANC2

1675002

chr17:
61391756-61391757

TG

T

exonic

De novo

frameshift deletion

NM_025185

c.946delG

p.A316fs

-

Fu2022 E
Satterstrom2020 E

TANC2

SSC10929

chr17:
61482569-61482569

C

T

exonic

De novo

stopgain

NM_025185

c.C3196T

p.R1066X

41.0

-

Antaki2022 GE
Fu2022 E

TANC2

AU017304

chr17:
61382219-61382219

C

T

intronic

De novo

-

Yuen2017 G

TANC2

2-0704-003

chr17:
61437885-61437899

CATATATATATATAT

CATATATATATAT

intronic

De novo

-

Yuen2017 G

TANC2

SSC08165

chr17:
61498409-61498409

A

G

exonic

De novo

nonsynonymous SNV

NM_025185

c.A5066G

p.H1689R

10.2

-

Fu2022 E
Lim2017 E

TANC2

2-1120-003

chr17:
61364590-61364590

G

A

intronic

De novo

-

Yuen2017 G

TANC2

5-0077-003

chr17:
61351748-61351754

ATAGAAG

A

intronic

De novo

-

Yuen2017 G

TANC2

13573.p1

chr17:
61498409-61498409

A

G

exonic

De novo

nonsynonymous SNV

NM_025185

c.A5066G

p.H1689R

10.2

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

TANC2

Mahjani2021:120

chr17:
61498858-61498858

C

T

exonic

stopgain

NM_025185

c.C5515T

p.R1839X

43.0

-

Mahjani2021 E

TANC2

14136.p1

chr17:
61482569-61482569

C

T

exonic

De novo

stopgain

NM_025185

c.C3196T

p.R1066X

41.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

TANC2

14436.p1

chr17:
61278319-61278319

G

A

splicing

Mosaic Pat.

splicing

26.8

-

Dou2017 E

TANC2

AU3702307

chr17:
61348478-61348478

G

A

intronic

De novo

-

Yuen2017 G

TANC2

SP0131810

chr17:
61432777-61432777

A

C

intronic

De novo

-

Fu2022 E

TANC2

SP0049518

chr17:
61345213-61345213

C

T

exonic

De novo

nonsynonymous SNV

NM_025185

c.C916T

p.R306C

31.0

1.663E-5

Fu2022 E

TANC2

AU4056301

chr17:
61462248-61462248

A

G

intronic

De novo

-

Yuen2017 G

TANC2

2-1180-003

chr17:
61424151-61424151

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TANC2

2-1592-003

chr17:
61496205-61496205

G

A

intronic

De novo

-

Yuen2017 G

TANC2

SP0048064

chr17:
61495595-61495595

T

C

intronic

De novo

-

Fu2022 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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