Variant Results

or

Results for "PIKFYVE"

Variant Events: 35

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

PIKFYVE

MCD-019-3

chr2:
209190942-209190942

C

G

exonic

Maternal

nonsynonymous SNV

NM_015040

c.C3407G

p.T1136S

13.95

-

Tuncay2023 G

PIKFYVE

AU005214

chr2:
209190466-209190466

A

G

exonic

De novo

synonymous SNV

NM_015040

c.A2931G

p.E977E

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PIKFYVE

2-1335-003

chr2:
209190632-209190632

T

A

exonic

De novo

nonsynonymous SNV

NM_015040

c.T3097A

p.S1033T

0.033

8.247E-6

Yuen2015 G
Yuen2017 G
Zhou2022 GE

PIKFYVE

AU3371305

chr2:
209143039-209143039

A

G

intronic

De novo

-

Yuen2017 G

PIKFYVE

PN400508

chr2:
209179036-209179036

G

A

exonic

Unknown

nonsynonymous SNV

NM_015040

c.G1715A

p.R572Q

29.1

0.0016

Leblond2019 E

PIKFYVE

AU011021

chr2:
209165709-209165709

A

C

exonic

De novo

nonsynonymous SNV

NM_152671
NM_001178000
NM_015040

c.A808C
c.A1099C
c.A1099C

p.S270R
p.S367R
p.S367R

20.1

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PIKFYVE

SP0133632

chr2:
209163383-209163383

C

A

exonic

nonsynonymous SNV

NM_152671
NM_001178000
NM_015040

c.C639A
c.C930A
c.C930A

p.N213K
p.N310K
p.N310K

15.85

-

Zhou2022 GE

PIKFYVE

MCD-019-3

chr2:
209210794-209210794

A

G

exonic

Paternal

nonsynonymous SNV

NM_015040

c.A5132G

p.K1711R

16.28

-

Tuncay2023 G

PIKFYVE

SSC03262

chr2:
209150500-209150500

C

T

exonic

De novo

nonsynonymous SNV

NM_152671
NM_001178000
NM_015040

c.C373T
c.C664T
c.C664T

p.H125Y
p.H222Y
p.H222Y

14.91

8.237E-6

Fu2022 E
Trost2022 G

PIKFYVE

DEASD_0169_001

chr2:
209167007-209167007

G

A

exonic

De novo

nonsynonymous SNV

NM_152671
NM_001178000
NM_015040

c.G959A
c.G1250A
c.G1250A

p.R320H
p.R417H
p.R417H

30.0

8.24E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PIKFYVE

7-0356-003

chr2:
209147530-209147534

GCAGA

G

intronic

De novo

-

Trost2022 G

PIKFYVE

1-1122-003

chr2:
209168604-209168604

C

A

intronic

De novo

-

Trost2022 G

PIKFYVE

3-0410-000

chr2:
209139436-209139436

G

A

intronic

De novo

-

Trost2022 G

PIKFYVE

AU031004

chr2:
209167182-209167182

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIKFYVE

2-1647-003

chr2:
209145249-209145255

TTCCTTC

T

intronic

De novo

-

Trost2022 G

PIKFYVE

iHART2300

chr2:
209136416-209136416

G

A

splicing

Maternal

splicing

20.8

-

Ruzzo2019 G

PIKFYVE

1-0552-003

chr2:
209219439-209219439

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIKFYVE

SP0135498

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PIKFYVE

AU2711303

chr2:
209157262-209157262

A

G

intronic

De novo

-

Yuen2017 G

PIKFYVE

SP0026933

chr2:
209190211-209190211

G

C

exonic

De novo

synonymous SNV

NM_015040

c.G2676C

p.L892L

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

PIKFYVE

SP0070866

chr2:
209169533-209169533

T

C

intronic

De novo

-

Fu2022 E

PIKFYVE

MSSNG00023-003

chr2:
209198626-209198626

C

G

intronic

De novo

-

Trost2022 G

PIKFYVE

SP0101129

chr2:
209169648-209169648

G

A

exonic

De novo

nonsynonymous SNV

NM_152671
NM_001178000
NM_015040

c.G1256A
c.G1547A
c.G1547A

p.S419N
p.S516N
p.S516N

7.443

8.238E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

PIKFYVE

3-0159-000

chr2:
209214311-209214313

TTA

T

intronic

De novo

-

Trost2022 G

PIKFYVE

iHART2298

chr2:
209136416-209136416

G

A

splicing

Maternal

splicing

20.8

-

Ruzzo2019 G

PIKFYVE

1-1003-003A

chr2:
209172549-209172551

ATC

A

intronic

De novo

-

Trost2022 G

PIKFYVE

SP0029109

chr2:
209184937-209184937

A

C

intronic

De novo

-

Fu2022 E
Trost2022 G

PIKFYVE

SP0093825

chr2:
209184937-209184937

A

C

intronic

De novo

-

Trost2022 G

PIKFYVE

mAGRE2300

chr2:
209136416-209136416

G

A

splicing

Maternal

splicing

20.8

-

Cirnigliaro2023 G

PIKFYVE

1-0565-004

chr2:
209156146-209156146

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIKFYVE

mAGRE2298

chr2:
209136416-209136416

G

A

splicing

Maternal

splicing

20.8

-

Cirnigliaro2023 G

PIKFYVE

1-0454-003

chr2:
209177897-209177897

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PIKFYVE

11679.p1

chr2:
209150500-209150500

C

T

exonic

De novo

nonsynonymous SNV

NM_152671
NM_001178000
NM_015040

c.C373T
c.C664T
c.C664T

p.H125Y
p.H222Y
p.H222Y

14.91

8.237E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

PIKFYVE

14341.p1

chr2:
209217389-209217389

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_015040

c.G5727A

p.A1909A

-

6.64E-5

Dou2017 E
Iossifov2014 E
Kosmicki2017 E

PIKFYVE

AU2089301

chr2:
209158378-209158378

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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