Variant Results

or

Results for "RRP12"

Variant Events: 14

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

RRP12

AC04-1008-01

chr10:
99160118-99160118

C

T

exonic

De novo

nonsynonymous SNV

NM_001145114
NM_001284337
NM_015179

c.G313A
c.G313A
c.G313A

p.V105I
p.V105I
p.V105I

16.1

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RRP12

iHART2862

chr10:
99155987-99155987

G

C

exonic

Maternal

stopgain

NM_001145114
NM_001284337
NM_015179

c.C441G
c.C441G
c.C441G

p.Y147X
p.Y147X
p.Y147X

37.0

-

Ruzzo2019 G

RRP12

7-0247-003

chr10:
99183411-99183411

C

T

intergenic

De novo

-

Yuen2017 G

RRP12

SP0029029

chr10:
99160734-99160734

A

T

intronic

De novo

-

Fu2022 E

RRP12

111317

chr10:
99141549-99141549

G

A

exonic

nonsynonymous SNV

NM_001284337
NM_001145114
NM_015179

c.C943T
c.C1060T
c.C1243T

p.R315C
p.R354C
p.R415C

32.0

-

Woodbury-Smith2022 E

RRP12

200675324@1082034490

chr10:
99131929-99131929

C

T

intronic

De novo

-

4.25E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RRP12

MT_61.3

chr10:
99140548-99140548

C

T

intronic

De novo

-

Trost2022 G
Zhou2022 GE

RRP12

200675324_1082034490

chr10:
99131929-99131929

C

T

intronic

De novo

-

4.25E-5

Fu2022 E

RRP12

440-04-101592

chr10:
99120379-99120379

T

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RRP12

2-1279-003

chr10:
99169295-99169295

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RRP12

AU3636302

chr10:
99179400-99179400

G

C

intergenic

De novo

-

Yuen2017 G

RRP12

5-5031-004

chr10:
99145940-99145940

A

T

intronic

De novo

-

Trost2022 G

RRP12

5-0039-003

chr10:
99154349-99154349

A

G

intronic

De novo

-

Trost2022 G

RRP12

mAGRE2862

chr10:
99155987-99155987

G

C

exonic

Maternal

stopgain

NM_001145114
NM_001284337
NM_015179

c.C441G
c.C441G
c.C441G

p.Y147X
p.Y147X
p.Y147X

37.0

-

Cirnigliaro2023 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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