Variant Results

or

or

Results for "STEAP4"

Variant Events: 26

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

STEAP4

2-1283-003

chr7:
88088151-88088151

G

T

intergenic

De novo

-

-

Yuen2017 G

STEAP4

2-0022-005

chr7:
88358011-88358016

TTGTGT

TTGT

intergenic

De novo

-

-

Yuen2017 G

STEAP4

iHART1312

chr7:
87912446-87912448

CTT

C

exonic

Paternal

frameshift deletion

NM_024636
NM_001205315

c.492_493del
c.492_493del

p.Q164fs
p.Q164fs

-

-

Ruzzo2019 G

STEAP4

2-0307-004

chr7:
88343561-88343561

A

G

intergenic

De novo

-

-

Yuen2017 G

STEAP4

1-0065-005

chr7:
87947697-87947697

C

T

intergenic

De novo

-

-

Yuen2017 G

STEAP4

1-0010-003

chr7:
88237352-88237352

T

C

intergenic

De novo

-

-

Yuen2017 G

STEAP4

2-1283-004

chr7:
88088151-88088151

G

T

intergenic

De novo

-

-

Yuen2017 G

STEAP4

5-0106-003

chr7:
88369645-88369645

A

G

intergenic

De novo

-

-

Yuen2017 G

STEAP4

AU4067301

chr7:
88115419-88115425

GAAAAAA

GAAAAAAA

intergenic

De novo

-

-

Yuen2017 G

STEAP4

mAGRE1312

chr7:
87912446-87912448

CTT

C

exonic

Paternal

frameshift deletion

NM_024636
NM_001205315

c.492_493del
c.492_493del

p.Q164fs
p.Q164fs

-

-

Cirnigliaro2023 G

STEAP4

mAGRE5305

chr7:
87912262-87912263

AG

A

exonic

Paternal

frameshift deletion

NM_024636
NM_001205315

c.677delC
c.677delC

p.P226fs
p.P226fs

-

Cirnigliaro2023 G

STEAP4

AU4435301

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

STEAP4

1-0560-003

chr7:
88309611-88309619

ATACCTTTA

ATA

intergenic

De novo

-

-

Yuen2017 G

STEAP4

A29

chr7:
88259302-88259302

T

A

intergenic

De novo

-

-

Wu2018 G

STEAP4

10C116198

chr7:
87908914-87908914

C

A

exonic

De novo

nonsynonymous SNV

NM_001205316
NM_024636
NM_001205315

c.G651T
c.G1179T
c.G1179T

p.L217F
p.L393F
p.L393F

14.82

-

Fu2022 E
Lim2017 E

STEAP4

2J788

chr7:
87911921-87911921

C

T

intronic

De novo

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

STEAP4

AU2310301

chr7:
87919847-87919847

G

C

intronic

De novo

-

-

Trost2022 G

STEAP4

7-0356-003

chr7:
87932006-87932006

C

G

intronic

De novo

-

-

Trost2022 G

STEAP4

2-0003-004

chr7:
88367408-88367408

A

G

intergenic

De novo

-

-

Yuen2017 G

STEAP4

12493.p1

chr7:
88088205-88088205

G

C

intergenic

De novo

-

-

Turner2016 G

STEAP4

2-1222-003

chr7:
88334200-88334200

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

STEAP4

AU3906301

chr7:
88112882-88112882

A

G

intergenic

De novo

-

-

Yuen2017 G

STEAP4

2-1152-003

chr7:
88162847-88162847

A

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

STEAP4

2-1239-003

chr7:
88204476-88204476

C

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

STEAP4

5-0077-004

chr7:
87986469-87986469

C

T

intergenic

De novo

-

-

Yuen2017 G

STEAP4

AU2075301

chr7:
88246274-88246274

C

G

intergenic

De novo

-

-

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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