Variant Results

or

or

Results for "DROSHA"

Variant Events: 11

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

13333.p1

chr5:
31406995-31406995

G

A

exonic

Mosaic

synonymous SNV

NM_001100412
NM_013235

c.C3801T
c.C3912T

p.F1267F
p.F1304F

-

-

Krupp2017 E

DROSHA

iHART2505

chr5:
31526996-31526996

C

G

exonic

De novo

nonsynonymous SNV

NM_013235
NM_001100412

c.G44C
c.G44C

p.G15A
p.G15A

15.46

-

Ruzzo2019 G

DROSHA

AU2793302

chr5:
31462854-31462854

T

C

intronic

De novo

-

-

Yuen2017 G

DROSHA

9190789

chr5:
31449660-31449660

C

T

intronic

De novo

-

-

Fu2022 E

DROSHA

SP0078455

chr5:
31526981-31526981

C

A

exonic

De novo

nonsynonymous SNV

NM_013235
NM_001100412

c.G59T
c.G59T

p.R20L
p.R20L

16.78

-

Fu2022 E

DROSHA

5981007471794-C

chr5:
31401483-31401483

T

C

UTR3

De novo

-

-

Fu2022 E

DROSHA

08C74458

chr5:
31526561-31526561

A

C

exonic

De novo

nonsynonymous SNV

NM_013235
NM_001100412

c.T479G
c.T479G

p.M160R
p.M160R

11.55

-

Fu2022 E
Satterstrom2020 E

DROSHA

AU3874303

chr5:
31466178-31466185

TAAAAAAA

TAAAAAAAA

intronic

De novo

-

-

Yuen2017 G

DROSHA

AU1764301

chr5:
31438647-31438647

G

A

intronic

De novo

-

-

Yuen2017 G

DROSHA

786_14

chr5:
31424513-31424513

A

T

intronic

De novo

-

-

Satterstrom2020 E

DROSHA

1-0487-003

chr5:
31412379-31412379

A

G

intronic

De novo

-

-

Yuen2016 G
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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