Variant Results

or

Results for "KIAA0556"

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

KIAA0556

1-0565-003

chr16:
27795054-27795054

C

T

intergenic

De novo

-

Yuen2017 G

KIAA0556

5-0054-003

chr16:
27600674-27600674

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0556

AU047704

chr16:
27569198-27569198

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0556

REACH000735

chr16:
27636200-27636200

A

G

intronic

De novo

-

Trost2022 G

KIAA0556

1-1015-003A

chr16:
27651261-27651261

G

A

intronic

De novo

-

Trost2022 G

KIAA0556

A12009-2

chr16:
27784529-27784530

CA

C

exonic

Unknown

frameshift deletion

NM_015202

c.4309delA

p.N1437fs

-

Li2017 T

KIAA0556

3-0246-000

chr16:
27759494-27759494

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KIAA0556

4-0062-003

chr16:
27595510-27595510

C

T

intronic

De novo

-

Trost2022 G

KIAA0556

SJD_27.3

chr16:
27606781-27606781

G

T

intronic

De novo

-

Trost2022 G

KIAA0556

7-0286-004A

chr16:
27583950-27583950

A

G

intronic

De novo

-

Trost2022 G

KIAA0556

REACH000026

chr16:
27588483-27588483

T

A

intronic

De novo

-

Trost2022 G

KIAA0556

5-0066-003

chr16:
27578186-27578186

G

A

intronic

De novo

-

Trost2022 G

KIAA0556

MSSNG00030-003

chr16:
27753709-27753712

CATG

C

intronic

De novo

-

Trost2022 G

KIAA0556

A11

chr16:
27580020-27580020

G

A

intronic

De novo

-

Wu2018 G

KIAA0556

AU3900301

chr16:
27632686-27632686

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0556

MSSNG00221-003

chr16:
27755186-27755186

G

A

intronic

De novo

-

Trost2022 G

KIAA0556

B203703

chr16:
27777628-27777628

A

C

splicing

De novo

splicing

18.5

-

Fu2022 E

KIAA0556

7-0373-003

chr16:
27733194-27733194

G

C

intronic

De novo

-

Trost2022 G

KIAA0556

SP0160290

chr16:
27751953-27751953

G

A

exonic

De novo

nonsynonymous SNV

NM_015202

c.G2335A

p.E779K

11.27

3.321E-5

Trost2022 G

KIAA0556

SP0148386

chr16:
27692682-27692682

C

T

intronic

De novo

-

7.419E-5

Trost2022 G

KIAA0556

SSC07552

chr16:
27692862-27692862

C

T

intronic

De novo

-

9.946E-5

Trost2022 G

KIAA0556

3-0161-000

chr16:
27675622-27675622

C

T

intronic

De novo

-

Trost2022 G

KIAA0556

1-0025-006

chr16:
27684033-27684033

C

ATTA

intronic

De novo

-

Trost2022 G

KIAA0556

iHART2086

chr16:
27772796-27772796

G

T

exonic

Paternal

stopgain

NM_015202

c.G3694T

p.E1232X

42.0

1.649E-5

Ruzzo2019 G

KIAA0556

12536.p1

chr16:
27692808-27692808

C

A

exonic

De novo

synonymous SNV

NM_015202

c.C897A

p.P299P

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

KIAA0556

12536_p1

chr16:
27692808-27692808

C

A

exonic

De novo

synonymous SNV

NM_015202

c.C897A

p.P299P

-

Fu2022 E

KIAA0556

4-0054-003

chr16:
27763865-27763865

A

T

intronic

De novo

-

Trost2022 G

KIAA0556

2-1764-004

chr16:
27790234-27790234

G

T

UTR3

De novo

-

Trost2022 G

KIAA0556

AU3680301

chr16:
27632105-27632105

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0556

mAGRE2086

chr16:
27772796-27772796

G

T

exonic

Paternal

stopgain

NM_015202

c.G3694T

p.E1232X

42.0

1.649E-5

Cirnigliaro2023 G

KIAA0556

AU3907302

chr16:
27720131-27720131

G

T

exonic

Maternal

stopgain

NM_015202

c.G1495T

p.E499X

37.0

-

Cirnigliaro2023 G

KIAA0556

AU3907301

chr16:
27720131-27720131

G

T

exonic

Maternal

stopgain

NM_015202

c.G1495T

p.E499X

37.0

-

Cirnigliaro2023 G

KIAA0556

2-0006-004

chr16:
27572171-27572171

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0556

AU0146301

chr16:
27787701-27787701

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0556

mAGRE4990

chr16:
27585263-27585263

C

T

exonic

Paternal

stopgain

NM_015202

c.C49T

p.R17X

33.0

9.073E-5

Cirnigliaro2023 G

KIAA0556

AU056005

chr16:
27589107-27589107

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0556

13349.p1

chr16:
27692862-27692862

C

T

intronic

De novo

-

9.946E-5

Krumm2015 E
Satterstrom2020 E

KIAA0556

A19

chr16:
27784529-27784530

CA

C

exonic

De novo

frameshift deletion

NM_015202

c.4309delA

p.N1437fs

-

Wu2018 G

KIAA0556

AU3636301

chr16:
27672430-27672430

G

A

intronic

De novo

-

Yuen2017 G

KIAA0556

SP0109367

chr16:
27712884-27712884

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

KIAA0556

2-1561-003

chr16:
27632425-27632425

C

T

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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