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Results for "SHROOM3"

Variant Events: 40

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
SHROOM3     7-0219-003chr4:
77473860-77473860
TCintronicDe novo--Trost2022 G
Yuen2017 G
SHROOM3     2-1107-003chr4:
77409410-77409410
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SHROOM3     5-0140-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
SHROOM3     1-0935-003chr4:
77737116-77737123
ATTTTTTTATTTTTTTTintergenicDe novo--Yuen2017 G
SHROOM3     2-1246-003chr4:
77691274-77691274
GAintronicDe novo--Trost2022 G
Yuen2017 G
SHROOM3     AU3903301chr4:
77765121-77765121
ACintergenicDe novo--Yuen2017 G
SHROOM3     2-0223-003chr4:
77814129-77814129
GAintergenicDe novo--Yuen2017 G
SHROOM3     1-0291-003chr4:
77448565-77448565
GAintronicDe novo--Trost2022 G
SHROOM3     1-0965-003chr4:
77676910-77676910
AGintronicDe novo--Trost2022 G
Yuen2017 G
SHROOM3     REACH000601chr4:
77473383-77473383
GAintronicDe novo--Trost2022 G
SHROOM3     2-1540-003chr4:
77424472-77424472
GTintronicDe novo--Trost2022 G
SHROOM3     MSSNG00196-003chr4:
77434896-77434896
AGintronicDe novo--Trost2022 G
SHROOM3     MT_182.3chr4:
77377847-77377847
ATintronicDe novo--Trost2022 G
SHROOM3     3-0262-000chr4:
77414171-77414171
CTintronicDe novo--Trost2022 G
SHROOM3     SMHC01963sfd0chr4:
77476765-77476765
GAexonicDe novononsynonymous SNVNM_020859c.G172Ap.E58K17.726.598E-5Yuan2023 E
SHROOM3     MT_172.3chr4:
77674690-77674690
AGintronicDe novo--Trost2022 G
SHROOM3     MSSNG00421-008chr4:
77689784-77689784
CTintronicDe novo--Trost2022 G
SHROOM3     MSSNG00030-004chr4:
77652852-77652852
TTAintronicDe novo--Trost2022 G
SHROOM3     MSSNG00014-004chr4:
77667091-77667091
GAintronicDe novo--Trost2022 G
SHROOM3     1-0756-005chr4:
77791359-77791359
CTintergenicDe novo--Yuen2017 G
SHROOM3     REACH000086chr4:
77647717-77647717
TAintronicDe novo--Trost2022 G
SHROOM3     REACH000086chr4:
77647719-77647719
TAintronicDe novo--Trost2022 G
SHROOM3     3-0819-000chr4:
77529905-77529905
GAintronicDe novo--Trost2022 G
SHROOM3     MSSNG00435-003chr4:
77529905-77529905
GAintronicDe novo--Trost2022 G
SHROOM3     1-0553-003chr4:
77475741-77475741
TGintronicDe novo--Trost2022 G
Yuen2017 G
SHROOM3     5-5127-003chr4:
77697867-77697867
GAintronicDe novo--Trost2022 G
SHROOM3     REACH000569chr4:
77702342-77702342
GAUTR3De novo--Trost2022 G
SHROOM3     AU3636302chr4:
77725151-77725159
ATTCTTCTTATTCTTintergenicDe novo--Yuen2017 G
SHROOM3     AU3888302chr4:
77741369-77741369
GTintergenicDe novo--Yuen2017 G
SHROOM3     AU1404302chr4:
77473572-77473572
AGintronicDe novo--Trost2022 G
Yuen2017 G
SHROOM3     7-0106-003chr4:
77689808-77689808
CTintronicDe novo--Trost2022 G
Yuen2017 G
SHROOM3     AU024104chr4:
77370048-77370048
CAintronicDe novo--Trost2022 G
Yuen2017 G
SHROOM3     AU2333302chr4:
77634911-77634911
CTintronicDe novo--Yuen2017 G
SHROOM3     13393.p1chr4:
77668060-77668060
CTintronicDe novo--Turner2016 G
SHROOM3     1-0184-003chr4:
77791486-77791486
GAintergenicDe novo--Yuen2017 G
SHROOM3     2-0116-004chr4:
77809969-77809969
CAintergenicDe novo--Yuen2017 G
SHROOM3     AU3712301chr4:
77791348-77791348
CTintergenicDe novo--Yuen2017 G
SHROOM3     1-0139-005chr4:
77697478-77697478
AGintronicDe novo--Yuen2017 G
SHROOM3     1-0454-003chr4:
77571267-77571267
ATintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SHROOM3     1-0820-003chr4:
77463481-77463481
TCintronicDe novo--Trost2022 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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