Variant Results

or

Results for "MPO"

Variant Events: 12

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

MPO

11734.p1

chr17:
56349101-56349106

CGGACA

C

exonic

De novo

frameshift deletion

NM_000250

c.1940_1944del

p.V647fs

-

Ji2016 E

MPO

AU1308303

chr17:
56373891-56373891

A

C

intergenic

De novo

-

Yuen2017 G

MPO

GM182974

chr17:
56349166-56349166

G

A

exonic

De novo

nonsynonymous SNV

NM_000250

c.C1880T

p.A627V

17.8

8.251E-6

Fu2022 E

MPO

iHART2396

chr17:
56356732-56356732

C

A

exonic

Maternal

stopgain

NM_000250

c.G604T

p.E202X

35.0

1.0E-4

Ruzzo2019 G

MPO

224-08-109968

chr17:
56356591-56356591

A

T

intronic

De novo

-

Satterstrom2020 E

MPO

AU4093304

chr17:
56361395-56361400

CAGAGA

CAGA

intergenic

De novo

-

Yuen2017 G

MPO

AU054304

chr17:
56348886-56348886

T

C

intronic

De novo

-

Yuen2017 G

MPO

SSC05168

chr17:
56356401-56356401

A

C

exonic

De novo

nonsynonymous SNV

NM_000250

c.T853G

p.C285G

25.2

-

Fu2022 E
Lim2017 E

MPO

09C84008

chr17:
56353059-56353059

G

T

exonic

De novo

nonsynonymous SNV

NM_000250

c.C1209A

p.D403E

18.7

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MPO

12360.p1

chr17:
56356401-56356401

A

C

exonic

De novo, Mosaic

nonsynonymous SNV

NM_000250

c.T853G

p.C285G

25.2

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

MPO

SP0062234

chr17:
56350258-56350258

C

T

exonic

De novo

nonsynonymous SNV

NM_000250

c.G1643A

p.R548Q

31.0

6.614E-5

Fu2022 E

MPO

1-0404-003

chr17:
56359537-56359537

C

A

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
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