Variant Results

or

or

Results for "ANKRD31"

Variant Events: 26

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

ANKRD31

Li2017:21

chr5:
74401031-74401031

C

CTCTATGGA

exonic

Unknown

stopgain

NM_001164443

c.4181_4182insTCCATAGA

p.E1394_S1395delinsDPX

-

-

Li2017 T

ANKRD31

Li2017:15

chr5:
74491509-74491509

C

A

exonic

Unknown

stopgain

NM_001164443

c.G964T

p.E322X

17.7

-

Li2017 T

ANKRD31

A16

chr5:
74401033-74401033

C

CCTATGGAT

exonic

De novo

frameshift insertion

NM_001164443

c.4179_4180insATCCATAG

p.E1394fs

-

-

Wu2018 G

ANKRD31

1-0563-003

chr5:
74494116-74494116

C

CT

intronic

De novo

-

-

Yuen2017 G

ANKRD31

A6

chr5:
74491509-74491509

C

A

exonic

De novo

stopgain

NM_001164443

c.G964T

p.E322X

17.7

-

Wu2018 G

ANKRD31

SP0086715

chr5:
74400049-74400049

A

C

intronic

De novo

-

-

Fu2022 E

ANKRD31

13999.p1

chr5:
74443349-74443349

T

C

intronic

De novo

-

-

Krumm2015 E
Satterstrom2020 E

ANKRD31

60-2027

chr5:
74598010-74598010

A

G

intergenic

De novo

-

-

Michaelson2012 G

ANKRD31

2-1163-003

chr5:
74547870-74547870

G

A

intergenic

De novo

-

-

Yuen2017 G

ANKRD31

1-0373-003

chr5:
74519515-74519515

A

C

intronic

De novo

-

-

Yuen2017 G

ANKRD31

AU3053301

chr5:
74560527-74560527

A

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD31

AU050603

chr5:
74389346-74389346

A

G

intronic

De novo

-

-

Yuen2017 G

ANKRD31

AU4007301

chr5:
74613926-74613926

C

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD31

iHART1738

chr5:
74532412-74532412

T

A

exonic

Maternal

stopgain

NM_001164443

c.A100T

p.R34X

40.0

-

Ruzzo2019 G

ANKRD31

iHART1740

chr5:
74532412-74532412

T

A

exonic

Maternal

stopgain

NM_001164443

c.A100T

p.R34X

40.0

-

Ruzzo2019 G

ANKRD31

2-1358-003

chr5:
74423423-74423423

T

A

intronic

De novo

-

-

Yuen2017 G

ANKRD31

AU4032307

chr5:
74617669-74617669

G

A

intergenic

De novo

-

-

Yuen2017 G

ANKRD31

AU050604

chr5:
74513984-74513984

G

T

intronic

De novo

-

-

Yuen2017 G

ANKRD31

Li2017:23157

chr5:
74400949-74400949

G

GT

exonic

Unknown

frameshift insertion

NM_001164443

c.4263dupA

p.Q1422fs

-

Li2017 T

ANKRD31

2-1300-003

chr5:
74539018-74539018

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ANKRD31

AU3646301

chr5:
74537388-74537388

A

G

intergenic

De novo

-

-

Yuen2017 G

ANKRD31

2-1466-003

chr5:
74539838-74539838

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ANKRD31

Li2017:16082

chr5:
74401031-74401031

C

CTCTATGGA

exonic

Unknown

stopgain

NM_001164443

c.4181_4182insTCCATAGA

p.E1394_S1395delinsDPX

-

-

Li2017 T

ANKRD31

2-1605-003

chr5:
74382699-74382699

C

T

intronic

De novo

-

-

Yuen2017 G

ANKRD31

AU3720302

chr5:
74601689-74601689

G

A

intergenic

De novo

-

-

Yuen2017 G

ANKRD31

A1386B

chr5:
74484431-74484431

C

T

exonic

De novo

nonsynonymous SNV

NM_001164443

c.G1451A

p.R484Q

13.23

-

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
	More