Variant Results

or

or

Results for "MEI1"

Variant Events: 17

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

MEI1

2-1451-003

chr22:
42140460-42140460

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MEI1

7-0002-003

chr22:
42156607-42156607

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MEI1

SP0000855

chr22:
42128476-42128476

G

C

exonic

De novo

nonsynonymous SNV

NM_152513

c.G1200C

p.Q400H

17.81

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

MEI1

mAGRE5573

chr22:
42191730-42191781

TCCCTGCAGCTCCAGAGCATGGGACACCTGGCTGACCACAGCATGGCCCAGA

T

exonic

Maternal

frameshift deletion

NM_152513

c.3667_3709del

p.L1223fs

-

-

Cirnigliaro2023 G

MEI1

13947.p1

chr22:
42099486-42099486

A

T

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

MEI1

mAGRE4520

chr22:
42119945-42119945

A

C

splicing

Maternal

splicing

21.1

Cirnigliaro2023 G

MEI1

AU4199303

chr22:
42185382-42185382

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MEI1

5-0065-003

chr22:
42158340-42158340

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MEI1

2-1184-003

chr22:
42157747-42157747

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MEI1

111290

chr22:
42128474-42128474

C

T

exonic

stopgain

NM_152513

c.C1198T

p.Q400X

37.0

Woodbury-Smith2022 E

MEI1

SP0239025

chr22:
42189827-42189827

C

A

intronic

De novo

-

-

Trost2022 G

MEI1

MSSNG00422-003

chr22:
42173335-42173335

A

G

intronic

De novo

-

-

Trost2022 G

MEI1

2-1645-003

chr22:
42181001-42181001

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MEI1

7-0395-003

chr22:
42163836-42163836

C

T

intronic

De novo

-

-

Trost2022 G

MEI1

7-0342-004

chr22:
42126989-42126989

G

T

intronic

De novo

-

-

Trost2022 G

MEI1

5-5065-003

chr22:
42105063-42105065

TTA

T

intronic

De novo

-

-

Trost2022 G

MEI1

CC1356_201

chr22:
42119960-42119960

G

C

exonic

De novo

nonsynonymous SNV

NM_152513

c.G747C

p.Q249H

17.31

-

Fu2022 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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