Variant Results

or

Results for "ANKRD50"

Variant Events: 41

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

ANKRD50

MT_188.3

chr4:
125587975-125587975

T

G

UTR3

De novo

-

Trost2022 G

ANKRD50

3-0055-000

chr4:
125600473-125600473

A

G

intronic

De novo

-

Trost2022 G

ANKRD50

AU046506

chr4:
125587517-125587517

T

A

UTR3

De novo

-

Trost2022 G

ANKRD50

200675555_1082035048

chr4:
125591221-125591221

G

T

exonic

De novo

nonsynonymous SNV

NM_001167882
NM_020337

c.C2674A
c.C3211A

p.P892T
p.P1071T

22.0

-

Fu2022 E

ANKRD50

SP0056689

chr4:
125591236-125591239

CTAA

C

exonic

De novo

nonframeshift deletion

NM_001167882
NM_020337

c.2656_2658del
c.3193_3195del

p.886_886del
p.1065_1065del

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ANKRD50

AU3371305

chr4:
126040563-126040588

TATATACATATACATATACATATACA

TATATACATATACATATACA

intergenic

De novo

-

Yuen2017 G

ANKRD50

AU3695303

chr4:
125989119-125989119

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD50

SP0005363

chr4:
125592478-125592478

C

T

exonic

De novo

nonsynonymous SNV

NM_001167882
NM_020337

c.G1417A
c.G1954A

p.A473T
p.A652T

13.75

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ANKRD50

1-0112-003

chr4:
125985710-125985710

G

T

intergenic

De novo

-

Yuen2017 G

ANKRD50

AU2792301

chr4:
126040658-126040658

T

A

intergenic

De novo

-

Yuen2017 G

ANKRD50

5-5231-003

chr4:
125615141-125615142

GA

G

intronic

De novo

-

Trost2022 G

ANKRD50

iHART1867

chr4:
125631188-125631189

TC

T

exonic

Maternal

frameshift deletion

NM_020337

c.478delG

p.E160fs

-

Ruzzo2019 G

ANKRD50

2-1735-003

chr4:
125756018-125756018

T

G

intergenic

De novo

-

Yuen2017 G

ANKRD50

200675555@1082035048

chr4:
125591221-125591221

G

T

exonic

De novo

nonsynonymous SNV

NM_001167882
NM_020337

c.C2674A
c.C3211A

p.P892T
p.P1071T

22.0

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ANKRD50

AU075703

chr4:
126061476-126061476

C

A

intergenic

De novo

-

Yuen2017 G

ANKRD50

AU4072303

chr4:
126155051-126155051

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD50

3-0216-000

chr4:
125711748-125711748

C

G

intergenic

De novo

-

Yuen2017 G

ANKRD50

2-0300-004

chr4:
125598501-125598501

T

C

intronic

De novo

-

Yuen2017 G

ANKRD50

A9

chr4:
125701031-125701031

G

C

intergenic

De novo

-

Wu2018 G

ANKRD50

1-0901-003

chr4:
126099719-126099719

A

AATT

intergenic

De novo

-

Yuen2017 G

ANKRD50

5-0015-003

chr4:
125893252-125893252

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD50

Chen2017:80

chr4:
125591221-125591221

G

T

exonic

De novo

nonsynonymous SNV

NM_001167882
NM_020337

c.C2674A
c.C3211A

p.P892T
p.P1071T

22.0

-

Chen2017 E

ANKRD50

2-0057-004

chr4:
125832987-125832987

A

C

intergenic

De novo

-

Yuen2017 G

ANKRD50

AU2123302

chr4:
126160785-126160785

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD50

14642.p1

chr4:
125633937-125633937

G

C

upstream

De novo

-

Turner2016 G

ANKRD50

1-0296-004

chr4:
126083588-126083588

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD50

AU3808305

chr4:
125929648-125929648

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD50

1-0485-003

chr4:
125594214-125594214

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANKRD50

2-1425-003

chr4:
125723413-125723413

C

G

intergenic

De novo

-

Yuen2017 G

ANKRD50

7-0119-003

chr4:
125745942-125745950

GAACAAACA

GAACA

intergenic

De novo

-

Yuen2017 G

ANKRD50

1-0290-003

chr4:
125843339-125843340

TC

T

intergenic

De novo

-

Yuen2017 G

ANKRD50

A7

chr4:
125986098-125986098

A

G

intergenic

De novo

-

Wu2018 G

ANKRD50

1-0347-003

chr4:
125935964-125935964

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD50

AU031004

chr4:
125894756-125894756

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD50

5-0061-003

chr4:
125721998-125721998

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD50

AU4243302

chr4:
125884789-125884789

A

T

intergenic

De novo

-

Yuen2017 G

ANKRD50

21854-36022

chr4:
125592253-125592254

GC

G

exonic

frameshift deletion

NM_001167882
NM_020337

c.1641delG
c.2178delG

p.G547fs
p.G726fs

-

Callaghan2019 G

ANKRD50

3-0392-000

chr4:
126048929-126048929

A

G

intergenic

De novo

-

Yuen2016 G

ANKRD50

1-0206-003

chr4:
126168193-126168193

A

T

intergenic

De novo

-

Yuen2017 G

ANKRD50

2-1398-004

chr4:
125663333-125663333

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD50

1-0206-003

chr4:
125867690-125867690

A

ATAATTT

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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