Variant Results

or

or

Results for "ANKIB1"

Variant Events: 19

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

ANKIB1

5-0084-003

chr7:
91963013-91963013

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANKIB1

2-1355-003

chr7:
91976573-91976573

T

C

intronic

De novo

-

-

Yuen2017 G

ANKIB1

SP0069558

chr7:
92028136-92028136

C

T

exonic

De novo

nonsynonymous SNV

NM_019004

c.C3143T

p.A1048V

12.52

Fu2022 E
Trost2022 G
Zhou2022 GE

ANKIB1

08C72589

chr7:
92027920-92027920

G

C

exonic

De novo

nonsynonymous SNV

NM_019004

c.G2927C

p.W976S

22.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ANKIB1

PN400576

chr7:
91948778-91948778

C

T

exonic

De novo

synonymous SNV

NM_019004

c.C621T

p.P207P

-

Leblond2019 E

ANKIB1

2-1097-003

chr7:
91997215-91997216

AT

CC

intronic

De novo

-

-

Trost2022 G

ANKIB1

PN400215

chr7:
91924406-91924406

A

G

exonic

De novo

synonymous SNV

NM_019004

c.A114G

p.T38T

-

-

Leblond2019 E

ANKIB1

SP0221280

chr7:
92020546-92020546

C

T

exonic

De novo

nonsynonymous SNV

NM_019004

c.C2119T

p.R707C

19.46

Trost2022 G

ANKIB1

5-5162-003

chr7:
91985264-91985264

T

G

intronic

De novo

-

-

Trost2022 G

ANKIB1

1-1058-003

chr7:
91986566-91986566

A

G

intronic

De novo

-

-

Trost2022 G

ANKIB1

2-0145-004

chr7:
92020022-92020022

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANKIB1

1-0292-005

chr7:
91918096-91918096

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANKIB1

1-0231-004

chr7:
91970822-91970822

T

C

intronic

De novo

-

-

Trost2022 G

ANKIB1

2-0202-003

chr7:
91992208-91992210

ATC

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANKIB1

14456.p1

chr7:
92025642-92025642

A

G

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

ANKIB1

SP0116376

chr7:
91924350-91924350

G

T

exonic

De novo

nonsynonymous SNV

NM_019004

c.G58T

p.A20S

32.0

-

Trost2022 G
Zhou2022 GE

ANKIB1

2-1277-003

chr7:
91890507-91890507

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANKIB1

AU3713301

chr7:
92052075-92052075

G

A

intergenic

De novo

-

-

Yuen2017 G

ANKIB1

2-0202-004

chr7:
91992208-91992210

ATC

A

intronic

De novo

-

-

Trost2022 G
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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