Variant Results

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Results for "MGAM2"

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

MGAM2

MSSNG00164-003

chr7:
141921102-141921102

A

G

exonic

nonsynonymous SNV

NM_001293626

c.A6791G

p.N2264S

-

-

Zhou2022 GE

MGAM2

AU031204

chr7:
141847371-141847374

CTTG

C

exonic

frameshift deletion

NM_001293626

c.1633_1634del

p.L545fs

-

-

Zhou2022 GE

MGAM2

AU054303

chr7:
141833124-141833130

ATATATT

AT

intronic

De novo

-

-

Yuen2017 G

MGAM2

111292

chr7:
141859115-141859115

C

A

exonic

nonsynonymous SNV

NM_001293626

c.C2192A

p.P731H

22.1

-

Woodbury-Smith2022 E

MGAM2

11740.p1

chr7:
141891404-141891406

ATA

CTC

intronic

Maternal

-

-

Wilfert2021 G

MGAM2

2-1330-003

chr7:
141861704-141861704

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MGAM2

Wang2023:319

chr7:
141921513-141921513

G

C

exonic

De novo

nonsynonymous SNV

NM_001293626

c.G7202C

p.S2401T

-

-

Wang2023 E

MGAM2

5-0041-003

chr7:
141844232-141844232

T

C

intronic

De novo

-

-

Yuen2017 G

MGAM2

1-0381-003

chr7:
141819031-141819031

T

A

intronic

De novo

-

-

Yuen2017 G

MGAM2

7-0100-003

chr7:
141880272-141880272

C

T

intronic

De novo

-

-

Yuen2017 G

MGAM2

AU4092302

chr7:
141823049-141823049

C

T

intronic

De novo

-

-

Yuen2017 G

MGAM2

1-0627-007

chr7:
141939298-141939298

T

C

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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