Variant Results

or

or

Results for "STRIP2"

Variant Events: 17

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

STRIP2

AU1448301

chr7:
129083701-129083701

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

STRIP2

1-0522-003

chr7:
129078731-129078731

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

STRIP2

AU4027306

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

STRIP2

12036-1

chr7:
129107099-129107099

G

A

intronic

De novo

-

-

Fu2022 E

STRIP2

SP0009650

chr7:
129074277-129074277

G

A

UTR5

De novo

-

-

Fu2022 E
Trost2022 G

STRIP2

2-1382-003

chr7:
129125422-129125422

A

T

exonic

De novo

nonsynonymous SNV

NM_020704

c.A2257T

p.I753F

24.7

-

Yuen2016 G
Yuen2017 G
Zhou2022 GE

STRIP2

SP0044764

chr7:
129091550-129091550

G

A

exonic

De novo

nonsynonymous SNV

NM_001134336
NM_020704

c.G371A
c.G371A

p.R124Q
p.R124Q

31.0

Fu2022 E
Trost2022 G
Zhou2022 GE

STRIP2

Lim2017:37110

chr7:
129094327-129094327

G

A

exonic

De novo

nonsynonymous SNV

NM_001134336
NM_020704

c.G665A
c.G665A

p.C222Y
p.C222Y

14.67

-

Lim2017 E

STRIP2

14652.p1

chr7:
129094327-129094327

G

A

exonic

De novo

nonsynonymous SNV

NM_001134336
NM_020704

c.G665A
c.G665A

p.C222Y
p.C222Y

14.67

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

STRIP2

7-0011-003

chr7:
129077367-129077367

T

TTG

intronic

De novo

-

-

Trost2022 G

STRIP2

2-1154-003

chr7:
129128732-129128732

C

T

downstream

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

STRIP2

37110

chr7:
129094327-129094327

G

A

exonic

De novo

nonsynonymous SNV

NM_001134336
NM_020704

c.G665A
c.G665A

p.C222Y
p.C222Y

14.67

-

Fu2022 E
Trost2022 G

STRIP2

SP0166320

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_020704
NM_020704

c.C2285T
c.G2284A

p.A762V
p.A762T

32.0

-

Trost2022 G
Trost2022 G

STRIP2

2-1261-003

chr7:
129119361-129119361

T

G

intronic

De novo

-

-

Trost2022 G

STRIP2

2-1261-003

chr7:
129119364-129119365

CT

C

intronic

De novo

-

-

Trost2022 G

STRIP2

1-1179-003

chr7:
129115548-129115548

T

TGCG

intronic

De novo

-

-

Trost2022 G

STRIP2

2-1261-003

chr7:
129119358-129119358

T

C

intronic

De novo

-

-

Trost2022 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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