Variant Results

or

Results for "RPS6KA3"

Variant Events: 41

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

RPS6KA3

2-1112-003

chrX:
20640000-20640000

C

A

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU4284301

chrX:
20590713-20590744

ATATATATATATATATTTTTTTTTTTTTTTTT

AT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

12850.p1

chrX:
20227514-20227514

G

A

exonic

De novo

synonymous SNV

NM_004586

c.C135T

p.V45V

-

Krumm2015 E
Zhou2022 GE

RPS6KA3

AU3885305

chrX:
20851716-20851716

C

A

intergenic

De novo

-

Yuen2017 G

RPS6KA3

5-0146-003

chrX:
21341902-21341912

CTTTTTTTTTT

CTTTTTTTTT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

Mahjani2021:80

chrX:
20187563-20187563

A

G

exonic

nonsynonymous SNV

NM_004586

c.T1400C

p.L467P

22.0

-

Mahjani2021 E

RPS6KA3

1-0998-003

chrX:
20691951-20691967

TTTTCTTTTCTTTCTTT

TTTTCTTTTCTTTCTTTTCTTTCTTT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU050603

chrX:
20743920-20743920

G

A

intergenic

De novo

-

Yuen2017 G

RPS6KA3

1-0744-003

chrX:
21361918-21361918

G

T

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU4103301

chrX:
20590713-20590744

ATATATATATATATATTTTTTTTTTTTTTTTT

AT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

7-0253-005

chrX:
20590723-20590747

ATATATTTTTTTTTTTTTTTTTTTT

AT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

1-0675-003

chrX:
21057548-21057565

CACACACACACACACAGA

CA

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU079605

chrX:
20691962-20691973

TTCTTTCTTTCT

TTCTTTCTTTCTCTTTCTTTCT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

Uddin2014:10

chrX:
20193403-20193403

G

C

exonic

De novo

stopgain

NM_004586

c.C1106G

p.S369X

37.0

-

Uddin2014 E

RPS6KA3

AU4060306

chrX:
20243349-20243384

TTTTTTTTTTTTGTTTTTTTTTTTGTTTTTTTTTTT

TTTTTTTTTTTTGTTTTTTTTTTT

intronic

De novo

-

Yuen2017 G

RPS6KA3

AU073005

chrX:
21057548-21057565

CACACACACACACACAGA

CA

intergenic

De novo

-

Yuen2017 G

RPS6KA3

1-0125-003

chrX:
20878053-20878053

A

G

intergenic

De novo

-

Yuen2017 G

RPS6KA3

5-0109-003

chrX:
20692107-20692108

CT

CTTT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU072505

chrX:
20590696-20590715

TATATATATATATATATATA

TATATATATATATATATATACACATATATATATATATATATA

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU3727302

chrX:
21057556-21057567

CACACACAGAGA

CA

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU3900302

chrX:
20367289-20367289

C

T

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU073006

chrX:
21057548-21057565

CACACACACACACACAGA

CA

intergenic

De novo

-

Yuen2017 G

RPS6KA3

Krgovic2022:036247

chrX:
20183150-20183150

T

C

exonic

Unknown

nonsynonymous SNV

NM_004586

c.A1631G

p.N544S

22.7

-

Krgovic2022 E

RPS6KA3

2-0142-003

chrX:
21067235-21067235

T

C

intergenic

De novo

-

Yuen2017 G

RPS6KA3

SSC07015

chrX:
20193403-20193403

G

C

exonic

stopgain

NM_004586

c.C1106G

p.S369X

37.0

-

Antaki2022 GE

RPS6KA3

1-0215-006

chrX:
20590713-20590747

ATATATATATATATATTTTTTTTTTTTTTTTTTTT

AT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

SP0089388

chrX:
20181092-20181092

T

C

exonic

nonsynonymous SNV

NM_004586

c.A1831G

p.M611V

15.3

-

Zhou2022 GE

RPS6KA3

AU4070301

chrX:
20903299-20903305

GTTTTTT

GTTTTTTT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

7-0149-003

chrX:
21390652-21390671

CACATATATACATATATACA

CACATATATACA

intergenic

De novo

-

Yuen2017 G

RPS6KA3

13222.p1

chrX:
20193403-20193403

G

C

exonic

De novo

stopgain

NM_004586

c.C1106G

p.S369X

37.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

RPS6KA3

AU4093301

chrX:
20874098-20874098

A

C

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU3713301

chrX:
20590723-20590747

ATATATTTTTTTTTTTTTTTTTTTT

AT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

Hu2022:72

chrX:
20284690-20284690

T

C

exonic

Unknown

nonsynonymous SNV

NM_004586

c.A61G

p.S21G

9.231

-

Hu2022 T

RPS6KA3

AU3727303

chrX:
21057556-21057567

CACACACAGAGA

CA

intergenic

De novo

-

Yuen2017 G

RPS6KA3

1-0567-004

chrX:
20447184-20447184

G

A

intergenic

De novo

-

Yuen2017 G

RPS6KA3

2-1346-003

chrX:
20334374-20334374

C

T

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU1940304

chrX:
21057552-21057565

CACACACACACAGA

CA

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU003406

chrX:
20520031-20520031

A

G

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU2485305

chrX:
20692137-20692152

CTCTCTCTGTCTCTCT

CTCTCTCT

intergenic

De novo

-

Yuen2017 G

RPS6KA3

7-0044-003

chrX:
20694528-20694532

TCAAA

T

intergenic

De novo

-

Yuen2017 G

RPS6KA3

AU3680301

chrX:
21081881-21081888

GTTTTTTT

GTTTTTTTT

intergenic

De novo

-

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
	More