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Results for "STEAP4"

Variant Events: 22

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     2-1283-003chr7:
88088151-88088151
GTintergenicDe novo--Yuen2017 G
STEAP4     1-0560-003chr7:
88309611-88309619
ATACCTTTAATAintergenicDe novo--Yuen2017 G
STEAP4     2-0022-005chr7:
88358011-88358016
TTGTGTTTGTintergenicDe novo--Yuen2017 G
STEAP4     A29chr7:
88259302-88259302
TAintergenicDe novo--Wu2018 G
STEAP4     10C116198chr7:
87908914-87908914
CAexonicDe novononsynonymous SNVNM_001205316
NM_024636
NM_001205315
c.G651T
c.G1179T
c.G1179T
p.L217F
p.L393F
p.L393F
14.82-Lim2017 E
STEAP4     iHART1312chr7:
87912446-87912448
CTTCexonicPaternalframeshift deletionNM_024636
NM_001205315
c.492_493del
c.492_493del
p.Q164fs
p.Q164fs
--Ruzzo2019 G
STEAP4     2J788chr7:
87911921-87911921
CTintronicDe novo--Satterstrom2020 E
STEAP4     2-0307-004chr7:
88343561-88343561
AGintergenicDe novo--Yuen2017 G
STEAP4     1-0065-005chr7:
87947697-87947697
CTintergenicDe novo--Yuen2017 G
STEAP4     1-0010-003chr7:
88237352-88237352
TCintergenicDe novo--Yuen2017 G
STEAP4     2-0003-004chr7:
88367408-88367408
AGintergenicDe novo--Yuen2017 G
STEAP4     12493.p1chr7:
88088205-88088205
GCintergenicDe novo--Turner2016 G
STEAP4     2-1222-003chr7:
88334200-88334200
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
STEAP4     AU3906301chr7:
88112882-88112882
AGintergenicDe novo--Yuen2017 G
STEAP4     2-1283-004chr7:
88088151-88088151
GTintergenicDe novo--Yuen2017 G
STEAP4     2-1152-003chr7:
88162847-88162847
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
STEAP4     2-1239-003chr7:
88204476-88204476
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
STEAP4     5-0106-003chr7:
88369645-88369645
AGintergenicDe novo--Yuen2017 G
STEAP4     AU4067301chr7:
88115419-88115425
GAAAAAAGAAAAAAAintergenicDe novo--Yuen2017 G
STEAP4     5-0077-004chr7:
87986469-87986469
CTintergenicDe novo--Yuen2017 G
STEAP4     AU2075301chr7:
88246274-88246274
CGintergenicDe novo--Yuen2017 G
STEAP4     AU4435301 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
Source Variant Information

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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 notesView
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