Variant Results

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Results for "INPP5K"

Variant Events: 11

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

INPP5K

DEASD_1029_001

chr17:
1412538-1412538

T

C

exonic

De novo

nonsynonymous SNV

NM_016532
NM_130766
NM_001135642

c.A488G
c.A260G
c.A260G

p.H163R
p.H87R
p.H87R

25.8

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

INPP5K

CC1131_202

chr17:
1410358-1410358

G

A

exonic

De novo

nonsynonymous SNV

NM_016532
NM_130766
NM_001135642

c.C692T
c.C464T
c.C464T

p.P231L
p.P155L
p.P155L

6.362

-

Fu2022 E

INPP5K

mAGRE5003

chr17:
1410385-1410385

T

G

splicing

Paternal

splicing

20.5

-

Cirnigliaro2023 G

INPP5K

11064.p1

chr17:
1399077-1399077

C

G

UTR3

De novo

-

Satterstrom2020 E

INPP5K

2-1239-003

chr17:
1411432-1411432

C

T

exonic

De novo

nonsynonymous SNV

NM_016532
NM_130766
NM_001135642

c.G643A
c.G415A
c.G415A

p.G215S
p.G139S
p.G139S

2.8

Jiang2013 G

INPP5K

5322

chr17:
1399077-1399077

C

G

UTR3

De novo

-

Trost2022 G

INPP5K

CC1131.202

chr17:
1410358-1410358

G

A

exonic

De novo

nonsynonymous SNV

NM_016532
NM_130766
NM_001135642

c.C692T
c.C464T
c.C464T

p.P231L
p.P155L
p.P155L

6.362

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

INPP5K

SP0212411

chr17:
1401379-1401379

G

A

exonic

De novo

synonymous SNV

NM_016532
NM_130766
NM_001135642

c.C814T
c.C586T
c.C586T

p.L272L
p.L196L
p.L196L

-

Trost2022 G

INPP5K

SP0004648

chr17:
1410461-1410461

A

G

intronic

De novo

-

-

Fu2022 E

INPP5K

2-0270-003

chr17:
1409158-1409158

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

INPP5K

2-1269-003

chr17:
1411432-1411432

C

T

exonic

De novo

nonsynonymous SNV

NM_016532
NM_130766
NM_001135642

c.G643A
c.G415A
c.G415A

p.G215S
p.G139S
p.G139S

2.8

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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