Variant Results

or

Results for "RPS6KA2"

Variant Events: 81

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

RPS6KA2

1-0274-003

chr6:
167152733-167152733

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

SP0064686

chr6:
167040395-167040395

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

RPS6KA2

SP0071274

chr6:
166836791-166836791

C

T

exonic

De novo

nonsynonymous SNV

NM_021135
NM_001006932

c.G1696A
c.G1720A

p.G566R
p.G574R

19.13

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RPS6KA2

AU3617302

chr6:
167202162-167202162

C

T

intronic

De novo

-

Yuen2017 G

RPS6KA2

1-0863-003

chr6:
166848435-166848435

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

AU3053301

chr6:
167013202-167013202

A

G

intronic

De novo

-

Yuen2017 G

RPS6KA2

2-1174-006

chr6:
167250028-167250028

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

3-0396-000

chr6:
167125812-167125812

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G

RPS6KA2

AU4473301

chr6:
167105406-167105406

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

2-0122-004

chr6:
167065953-167065953

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

Viggiano2022:22.3

chr6:
166872964-166872964

G

T

exonic

Paternal

nonsynonymous SNV

NM_021135
NM_001006932

c.C1048A
c.C1072A

p.P350T
p.P358T

15.34

-

Viggiano2022 GT

RPS6KA2

TRE_2493

chr6:
166836908-166836908

G

T

intronic

De novo

-

Fu2022 E

RPS6KA2

AU051503

chr6:
167174240-167174240

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

1-0296-003

chr6:
167268863-167268866

GGAA

G

intronic

De novo

-

Yuen2017 G

RPS6KA2

Viggiano2022:22.4

chr6:
166872964-166872964

G

T

exonic

Paternal

nonsynonymous SNV

NM_021135
NM_001006932

c.C1048A
c.C1072A

p.P350T
p.P358T

15.34

-

Viggiano2022 GT

RPS6KA2

1-0566-003

chr6:
166993723-166993723

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

2-0303-004

chr6:
166863601-166863601

G

GA

intronic

De novo

-

Yuen2017 G

RPS6KA2

09C95821

chr6:
166836835-166836835

C

T

exonic

De novo

nonsynonymous SNV

NM_021135
NM_001006932

c.G1652A
c.G1676A

p.R551Q
p.R559Q

20.6

8.254E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RPS6KA2

13324.p1

chr6:
166909322-166909322

G

A

intronic

De novo

-

Turner2016 G

RPS6KA2

AU058103

chr6:
166880827-166880827

C

T

intronic

De novo

-

Yuen2017 G

RPS6KA2

1-0385-003

chr6:
167121291-167121291

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

2-1341-004

chr6:
166863493-166863493

G

GAGGACCGCCATGGGAACCACCAT

intronic

De novo

-

Yuen2017 G

RPS6KA2

AU4273304

chr6:
166998247-166998247

G

T

intronic

De novo

-

Yuen2017 G

RPS6KA2

3-0111-000

chr6:
167173160-167173161

CT

C

intronic

De novo

-

Yuen2016 G

RPS6KA2

2-0149-004

chr6:
166951947-166951947

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

AU046708

chr6:
166829693-166829693

A

C

intronic

De novo

-

Trost2022 G

RPS6KA2

REACH000058

chr6:
166829696-166829696

A

C

intronic

De novo

-

Trost2022 G

RPS6KA2

2-1370-003

chr6:
166829693-166829693

A

C

intronic

De novo

-

Trost2022 G

RPS6KA2

2-1441-003

chr6:
167243567-167243567

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

RPS6KA2

3-0223-000

chr6:
166829693-166829693

A

C

intronic

De novo

-

Trost2022 G

RPS6KA2

AU4159301

chr6:
166829630-166829630

C

A

intronic

De novo

-

Trost2022 G

RPS6KA2

AU4159302

chr6:
166829630-166829630

C

A

intronic

De novo

-

Trost2022 G

RPS6KA2

1-0640-003

chr6:
166829630-166829630

C

A

intronic

De novo

-

Trost2022 G

RPS6KA2

AU2193301

chr6:
166895919-166895919

C

T

intronic

De novo

-

Trost2022 G

RPS6KA2

3-0749-000A

chr6:
166898482-166898482

C

T

intronic

De novo

-

Trost2022 G

RPS6KA2

AU2288301

chr6:
166894041-166894041

T

C

intronic

De novo

-

Trost2022 G

RPS6KA2

5-0076-003

chr6:
166895157-166895157

A

C

intronic

De novo

-

Trost2022 G

RPS6KA2

5-5123-003

chr6:
166869935-166869935

G

A

intronic

De novo

-

Trost2022 G

RPS6KA2

2-1275-003

chr6:
166879179-166879189

ATTTCTCTCTC

A

intronic

De novo

-

Trost2022 G

RPS6KA2

MSSNG00221-003

chr6:
166849812-166849812

A

C

intronic

De novo

-

Trost2022 G

RPS6KA2

10-1155-004

chr6:
166853898-166853898

A

G

intronic

De novo

-

Trost2022 G

RPS6KA2

7-0081-003

chr6:
167041512-167041512

G

A

intronic

De novo

-

Trost2022 G

RPS6KA2

2-1692-003

chr6:
167055170-167055170

T

TGCACTCCA

intronic

De novo

-

Trost2022 G

RPS6KA2

5-5024-003

chr6:
167008193-167008193

G

A

intronic

De novo

-

Trost2022 G

RPS6KA2

AU3371305

chr6:
167019505-167019505

T

A

intronic

De novo

-

Trost2022 G

RPS6KA2

2-0205-003

chr6:
166989134-166989134

G

A

intronic

De novo

-

Trost2022 G

RPS6KA2

3-0711-000A

chr6:
167007101-167007101

C

T

intronic

De novo

-

Trost2022 G

RPS6KA2

2-1529-003

chr6:
166934921-166934921

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

7-0130-003

chr6:
167268863-167268866

GGAA

G

intronic

De novo

-

Yuen2017 G

RPS6KA2

3-0829-000

chr6:
166911973-166911973

G

T

intronic

De novo

-

Trost2022 G

RPS6KA2

AU2688301

chr6:
166987098-166987098

T

C

intronic

De novo

-

Trost2022 G

RPS6KA2

REACH000631

chr6:
167130829-167130829

G

C

intronic

De novo

-

Trost2022 G

RPS6KA2

2-1727-004

chr6:
167133122-167133122

T

C

intronic

De novo

-

Trost2022 G

RPS6KA2

12657.p1

chr6:
166831695-166831695

G

T

intronic

De novo

-

Krumm2015 E

RPS6KA2

AU059903

chr6:
167109257-167109257

T

C

intronic

De novo

-

Trost2022 G

RPS6KA2

1-0274-004

chr6:
167152733-167152733

T

C

intronic

De novo

-

Yuen2017 G

RPS6KA2

14-1014

chr6:
167109814-167109814

A

G

intronic

De novo

-

Trost2022 G

RPS6KA2

AU4006302

chr6:
167098692-167098692

A

G

intronic

De novo

-

Trost2022 G

RPS6KA2

3-0442-000

chr6:
166929494-166929494

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

RPS6KA2

7-0390-003

chr6:
167109257-167109257

T

C

intronic

De novo

-

Trost2022 G

RPS6KA2

AU009805

chr6:
166823059-166823059

C

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

AU056204

chr6:
167301260-167301260

T

C

intergenic

De novo

-

Yuen2017 G

RPS6KA2

REACH000145

chr6:
167061251-167061251

C

T

intronic

De novo

-

Trost2022 G

RPS6KA2

7-0294-003

chr6:
167095904-167095904

G

A

intronic

De novo

-

Trost2022 G

RPS6KA2

AU3727302

chr6:
167007676-167007676

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

AU2288301

chr6:
167185653-167185653

C

A

intronic

De novo

-

Trost2022 G

RPS6KA2

5-0015-003

chr6:
166984927-166984927

C

T

intronic

De novo

-

Yuen2017 G

RPS6KA2

AU3727302

chr6:
167110522-167110522

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

2-1430-005A

chr6:
167191597-167191598

AC

A

intronic

De novo

-

Trost2022 G

RPS6KA2

MSSNG00040-003

chr6:
167163252-167163252

C

T

intronic

De novo

-

Trost2022 G

RPS6KA2

2-1290-004

chr6:
167173966-167173966

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

AU2639301

chr6:
167170716-167170716

C

T

intronic

De novo

-

Trost2022 G

RPS6KA2

1-0672-003

chr6:
167139634-167139634

G

T

intronic

De novo

-

Trost2022 G

RPS6KA2

2-1357-003

chr6:
167226054-167226061

GAAATCCT

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

AU043804

chr6:
167158709-167158709

G

A

intronic

De novo

-

Trost2022 G

RPS6KA2

1-0141-003

chr6:
167016768-167016768

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

2-1727-003

chr6:
167133122-167133122

T

C

intronic

De novo

-

Trost2022 G

RPS6KA2

4-0062-003

chr6:
167138944-167138945

CC

GA

intronic

De novo

-

Trost2022 G

RPS6KA2

2-0063-005

chr6:
166918915-166918915

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

2-0244-003

chr6:
166879179-166879189

ATTTCTCTCTC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RPS6KA2

2-1292-004

chr6:
167268861-167268861

A

AAG

intronic

De novo

-

Trost2022 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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