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Results for "DROSHA"

Variant Events: 21

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
DROSHA     AU2468301chr5:
31526561-31526561
ACexonicnonsynonymous SNVNM_013235
NM_001100412
c.T479G
c.T479G
p.M160R
p.M160R
11.55-Zhou2022 GE
DROSHA     13333.p1chr5:
31406995-31406995
GAexonicMosaicsynonymous SNVNM_001100412
NM_013235
c.C3801T
c.C3912T
p.F1267F
p.F1304F
--Krupp2017 E
DROSHA     1-0700-003Achr5:
31493340-31493340
TCexonicDe novononsynonymous SNVNM_001100412
NM_013235
c.A1705G
c.A1816G
p.M569V
p.M606V
12.92.3E-5Trost2022 G
Zhou2022 GE
DROSHA     1-1212-003chr5:
31481957-31481957
AGintronicDe novo--Trost2022 G
DROSHA     2-1644-003chr5:
31483073-31483082
TTAAAAACACTintronicDe novo--Trost2022 G
DROSHA     4-0062-003chr5:
31464437-31464438
TTGGexonicDe novononframeshift substitutionNM_001100412
NM_013235
c.2368_2369CC
c.2479_2480CC
N/A
N/A
--Trost2022 G
DROSHA     3-0183-000chr5:
31476664-31476664
TCintronicDe novo--Trost2022 G
DROSHA     iHART2505chr5:
31526996-31526996
CGexonicDe novononsynonymous SNVNM_013235
NM_001100412
c.G44C
c.G44C
p.G15A
p.G15A
15.46-Ruzzo2019 G
DROSHA     mAGRE2505chr5:
31526996-31526996
CGexonicDe novononsynonymous SNVNM_013235
NM_001100412
c.G44C
c.G44C
p.G15A
p.G15A
15.46-Cirnigliaro2023 G
DROSHA     1-0549-003chr5:
31525782-31525782
TCintronicDe novo--Trost2022 G
DROSHA     AU2793302chr5:
31462854-31462854
TCintronicDe novo--Trost2022 G
Yuen2017 G
DROSHA     9190789chr5:
31449660-31449660
CTintronicDe novo--Fu2022 E
DROSHA     SP0078455chr5:
31526981-31526981
CAexonicDe novononsynonymous SNVNM_013235
NM_001100412
c.G59T
c.G59T
p.R20L
p.R20L
16.78-Fu2022 E
Trost2022 G
Zhou2022 GE
DROSHA     3-0713-000chr5:
31496645-31496645
ACintronicDe novo--Trost2022 G
DROSHA     5981007471794-Cchr5:
31401483-31401483
TCUTR3De novo--Fu2022 E
DROSHA     7-0460-003chr5:
31524969-31524969
TCintronicDe novo--Trost2022 G
DROSHA     08C74458chr5:
31526561-31526561
ACexonicDe novononsynonymous SNVNM_013235
NM_001100412
c.T479G
c.T479G
p.M160R
p.M160R
11.55-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DROSHA     AU3874303 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
DROSHA     AU1764301chr5:
31438647-31438647
GAintronicDe novo--Trost2022 G
Yuen2017 G
DROSHA     786_14chr5:
31424513-31424513
ATintronicDe novo--Satterstrom2020 E
Trost2022 G
DROSHA     1-0487-003chr5:
31412379-31412379
AGintronicDe novo--Trost2022 G
Yuen2016 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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