Variant Results

or

or

Results for "ANKRD12"

Variant Events: 21

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

ANKRD12

5-0055-003

chr18:
9225453-9225453

C

CAAA

intronic

De novo

-

-

Yuen2017 G

ANKRD12

AU050603

chr18:
9295320-9295320

T

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD12

AU2000304

chr18:
9331235-9331235

G

C

intergenic

De novo

-

-

Yuen2017 G

ANKRD12

2-0298-003

chr18:
9272817-9272817

A

G

intronic

De novo

-

-

Yuen2017 G

ANKRD12

2-0307-004

chr18:
9160338-9160338

T

C

intronic

De novo

-

-

Yuen2017 G

ANKRD12

AU4212303

chr18:
9287072-9287079

CTGTGTGT

CTGTGTGTGT

intergenic

De novo

-

-

Yuen2017 G

ANKRD12

EGAN00001101289

chr18:
9280944-9280944

T

G

exonic

De novo

nonsynonymous SNV

NM_001083625
NM_001204056
NM_015208

c.T5940G
c.T5940G
c.T6009G

p.C1980W
p.C1980W
p.C2003W

13.9

-

Fu2022 E
Satterstrom2020 E

ANKRD12

CC1394_201

chr18:
9254667-9254667

C

A

exonic

De novo

nonsynonymous SNV

NM_001083625
NM_001204056
NM_015208

c.C1333A
c.C1333A
c.C1402A

p.Q445K
p.Q445K
p.Q468K

12.54

-

Fu2022 E

ANKRD12

4018001

chr18:
9256070-9256074

TAAAC

T

exonic

De novo

frameshift deletion

NM_001083625
NM_001204056
NM_015208

c.2737_2740del
c.2737_2740del
c.2806_2809del

p.K913fs
p.K913fs
p.K936fs

-

Fu2022 E

ANKRD12

1-0219-003

chr18:
9225453-9225453

C

CAAA

intronic

De novo

-

-

Yuen2017 G

ANKRD12

7-0023-003

chr18:
9214283-9214295

GGCTATACATAGC

GGC

intronic

De novo

-

-

Yuen2017 G

ANKRD12

5-0125-003

chr18:
9210450-9210450

A

G

intronic

De novo

-

-

Yuen2017 G

ANKRD12

SP0062265

chr18:
9275532-9275532

T

C

exonic

De novo

nonsynonymous SNV

NM_001083625
NM_001204056
NM_015208

c.T5705C
c.T5705C
c.T5774C

p.I1902T
p.I1902T
p.I1925T

24.5

-

Fu2022 E

ANKRD12

1-0458-003

chr18:
9225453-9225453

C

CAAA

intronic

De novo

-

-

Yuen2017 G

ANKRD12

1-0352-003

chr18:
9296670-9296670

C

T

intergenic

De novo

-

-

Yuen2016 G

ANKRD12

iHART1339

chr18:
9255865-9255870

TAAAAG

T

exonic

Maternal

frameshift deletion

NM_001083625
NM_001204056
NM_015208

c.2532_2536del
c.2532_2536del
c.2601_2605del

p.I844fs
p.I844fs
p.I867fs

-

Ruzzo2019 G

ANKRD12

1-0352-005

chr18:
9296670-9296670

C

T

intergenic

De novo

-

-

Yuen2017 G

ANKRD12

JASD_Fam0245

chr18:
9221974-9221977

CTGA

C

exonic

De novo

nonframeshift deletion

NM_001083625
NM_001204056
NM_015208

c.852_854del
c.852_854del
c.921_923del

p.284_285del
p.284_285del
p.307_308del

-

-

Takata2018 E

ANKRD12

2-1358-003

chr18:
9278534-9278534

C

T

intronic

De novo

-

-

Yuen2017 G

ANKRD12

1-0524-003

chr18:
9242799-9242799

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ANKRD12

AU072504

chr18:
9308165-9308165

C

T

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
	More