Variant Results

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Results for "RPS6KA6"

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

RPS6KA6

iHART2164

chrX:
83360794-83360794

C

A

splicing

Unknown

splicing

18.16

-

Ruzzo2019 G

RPS6KA6

iHART2163

chrX:
83360794-83360794

C

A

splicing

Maternal

splicing

18.16

-

Ruzzo2019 G

RPS6KA6

1-0651-003

chrX:
83396486-83396494

CAAAAAAAA

CAAAAAAAAA

intronic

De novo

-

-

Yuen2017 G

RPS6KA6

mAGRE2163

chrX:
83360794-83360794

C

A

splicing

Maternal

splicing

18.16

-

Cirnigliaro2023 G

RPS6KA6

AU061104

chrX:
83405910-83405917

GATATATA

GATATATATATA

intronic

De novo

-

-

Yuen2017 G

RPS6KA6

AU4197301

chrX:
83517035-83517035

T

G

intergenic

De novo

-

-

Yuen2017 G

RPS6KA6

7-0133-003

chrX:
83325395-83325395

C

G

intronic

De novo

-

-

Yuen2017 G

RPS6KA6

AU3729303

chrX:
83372651-83372651

C

A

intronic

De novo

-

-

Yuen2017 G

RPS6KA6

AU1988301

chrX:
83527681-83527690

GAAAAAAAAA

GAAAAAAAAAA

intergenic

De novo

-

-

Yuen2017 G

RPS6KA6

mAGRE2164

chrX:
83360794-83360794

C

A

splicing

Unknown

splicing

18.16

-

Cirnigliaro2023 G

RPS6KA6

Al-Mubarak2017:ASD-64

chrX:
83359586-83359586

T

C

exonic

Unknown

nonsynonymous SNV

NM_014496

c.A1535G

p.Q512R

15.58

-

Al-Mubarak2017 E

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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