Variant Results

or

Results for "MPHOSPH8"

Variant Events: 16

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

MPHOSPH8

Uddin2014:11

chr13:
20235898-20235898

C

T

exonic

De novo

stopgain

NM_017520

c.C1852T

p.R618X

21.2

-

Uddin2014 E

MPHOSPH8

08C73486

chr13:
20235935-20235935

G

A

exonic

De novo

nonsynonymous SNV

NM_017520

c.G1889A

p.R630Q

15.2

8.263E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MPHOSPH8

AU3937301

chr13:
20251191-20251191

A

G

intergenic

De novo

-

Yuen2017 G

MPHOSPH8

SP0231154

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_017520
NM_017520

c.C1846G
c.T1847A

p.L616V
p.L616H

19.9

-

Trost2022 G
Trost2022 G

MPHOSPH8

1002717394-C

chr13:
20237334-20237334

C

T

intronic

De novo

-

Fu2022 E

MPHOSPH8

2-1107-003

chr13:
20208959-20208959

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MPHOSPH8

2-1617-003

chr13:
20266585-20266585

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

MPHOSPH8

AU3858302

chr13:
20250558-20250558

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

MPHOSPH8

3-0460-000

chr13:
20269688-20269688

C

A

intergenic

De novo

-

Trost2022 G

MPHOSPH8

AM02ZF-03

chr13:
20264277-20264277

A

G

intergenic

De novo

-

Trost2022 G

MPHOSPH8

AM02ZF-03

chr13:
20264296-20264296

G

T

intergenic

De novo

-

Trost2022 G

MPHOSPH8

2-1740-003

chr13:
20239285-20239285

T

C

intronic

De novo

-

Trost2022 G

MPHOSPH8

1025

chr13:
20253916-20253916

G

A

intergenic

De novo

-

Trost2022 G

MPHOSPH8

12224.p1

chr13:
20235898-20235898

C

T

exonic

De novo

stopgain

NM_017520

c.C1852T

p.R618X

21.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

MPHOSPH8

SSC04305

chr13:
20235898-20235898

C

T

exonic

De novo

stopgain

NM_017520

c.C1852T

p.R618X

21.2

-

Fu2022 E
Lim2017 E
Trost2022 G

MPHOSPH8

AU2338301

chr13:
20235935-20235935

G

A

exonic

nonsynonymous SNV

NM_017520

c.G1889A

p.R630Q

15.2

8.263E-6

Zhou2022 GE

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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