Variant Results

or

Results for "ANKRD17"

Variant Events: 30

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

ANKRD17

09C95606

chr4:
73957308-73957311

CTGT

C

exonic

De novo

nonframeshift deletion

NM_198889
NM_001286771
NM_032217

c.5281_5283del
c.5695_5697del
c.6034_6036del

p.1761_1761del
p.1899_1899del
p.2012_2012del

-

DeRubeis2014 E
Kosmicki2017 E

ANKRD17

DEASD_0332_001

chr4:
74026943-74026943

C

T

exonic

De novo

nonsynonymous SNV

NM_001286771
NM_032217
NM_198889

c.G331A
c.G670A
c.G670A

p.A111T
p.A224T
p.A224T

23.9

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ANKRD17

1-0441-003

chr4:
74227425-74227425

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD17

AU4315302

chr4:
74100253-74100253

G

A

intronic

De novo

-

Yuen2017 G

ANKRD17

11583.p1

chr4:
73968205-73968205

C

T

exonic

De novo

synonymous SNV

NM_198889
NM_001286771
NM_032217

c.G3708A
c.G4122A
c.G4461A

p.K1236K
p.K1374K
p.K1487K

-

Iossifov2014 E
Kosmicki2017 E

ANKRD17

13851.p1

chr4:
73981598-73981598

T

G

exonic

De novo

nonsynonymous SNV

NM_198889
NM_001286771
NM_032217

c.A3471C
c.A3885C
c.A4224C

p.E1157D
p.E1295D
p.E1408D

21.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

ANKRD17

2-1228-003

chr4:
74092893-74092893

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ANKRD17

2-0240-004

chr4:
74159213-74159213

C

G

intergenic

De novo

-

Yuen2017 G

ANKRD17

200675730@1082034174

chr4:
73957176-73957176

T

TA

exonic

De novo

stopgain

NM_198889
NM_001286771
NM_032217

c.5415dupT
c.5829dupT
c.6168dupT

p.R1806_N1807delinsX
p.R1944_N1945delinsX
p.R2057_N2058delinsX

-

Satterstrom2020 E

ANKRD17

1-0246-004

chr4:
74132284-74132284

T

G

intergenic

De novo

-

Yuen2017 G

ANKRD17

AU2162302

chr4:
74002061-74002061

C

T

intronic

De novo

-

Yuen2017 G

ANKRD17

AU2162302

chr4:
74142375-74142375

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD17

AU3506303

chr4:
73968259-73968259

C

A

exonic

De novo

nonsynonymous SNV

NM_198889
NM_001286771
NM_032217

c.G3654T
c.G4068T
c.G4407T

p.R1218S
p.R1356S
p.R1469S

14.96

-

Yuen2017 G

ANKRD17

16260-27149

chr4:
74007509-74007509

G

A

exonic

Inherited

nonsynonymous SNV

NM_001286771
NM_032217
NM_198889

c.C1942T
c.C2281T
c.C2281T

p.P648S
p.P761S
p.P761S

35.0

-

Callaghan2019 G

ANKRD17

1-0215-006

chr4:
74224673-74224673

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD17

DEASD_1063_001

chr4:
73957308-73957311

CTGT

C

exonic

De novo

nonframeshift deletion

NM_198889
NM_001286771
NM_032217

c.5281_5283del
c.5695_5697del
c.6034_6036del

p.1761_1761del
p.1899_1899del
p.2012_2012del

-

Satterstrom2020 E

ANKRD17

1-0568-003

chr4:
74206960-74206960

T

C

intergenic

De novo

-

Yuen2017 G

ANKRD17

1-0862-003

chr4:
74236620-74236620

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD17

2-1116-003

chr4:
74254161-74254161

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ANKRD17

1-0530-003

chr4:
73983732-73983732

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ANKRD17

SP0000301

chr4:
74124296-74124296

G

C

exonic

De novo

synonymous SNV

NM_032217
NM_198889

c.C90G
c.C90G

p.P30P
p.P30P

-

Fu2022 E

ANKRD17

SP0008060

chr4:
74019646-74019646

C

T

exonic

De novo

synonymous SNV

NM_001286771
NM_032217
NM_198889

c.G846A
c.G1185A
c.G1185A

p.T282T
p.T395T
p.T395T

-

5.832E-5

Fu2022 E

ANKRD17

2-0006-004

chr4:
74136225-74136225

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD17

DEASD_1019_001

chr4:
73981668-73981668

G

C

intronic

De novo

-

Satterstrom2020 E

ANKRD17

A1

chr4:
74240229-74240229

G

A

intergenic

De novo

-

Wu2018 G

ANKRD17

1-0332-003

chr4:
74237179-74237179

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD17

2-1373-003

chr4:
74022345-74022360

GCTCTCTCTCTCTCTC

GCTCTCTCTCTCTC

intronic

De novo

-

Yuen2017 G

ANKRD17

SSC09449

chr4:
73981598-73981598

T

G

exonic

De novo

nonsynonymous SNV

NM_198889
NM_001286771
NM_032217

c.A3471C
c.A3885C
c.A4224C

p.E1157D
p.E1295D
p.E1408D

21.2

-

Fu2022 E

ANKRD17

200675730_1082034174

chr4:
73957176-73957176

T

TA

exonic

De novo

stopgain

NM_198889
NM_001286771
NM_032217

c.5415dupT
c.5829dupT
c.6168dupT

p.R1806_N1807delinsX
p.R1944_N1945delinsX
p.R2057_N2058delinsX

-

Fu2022 E

ANKRD17

7-0223-003

chr4:
74187723-74187723

A

G

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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