Variant Results

or

or

Results for "MACROD1"

Variant Events: 18

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

MACROD1

7-0171-003

chr11:
63795252-63795252

G

A

intronic

De novo

-

-

Yuen2017 G

MACROD1

1-0745-003

chr11:
63856878-63856880

CCA

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MACROD1

12804.p1

chr11:
63793746-63793746

C

T

intronic

Unknown

-

-

Werling2018 G

MACROD1

2-1719-003

chr11:
63919095-63919095

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MACROD1

2-1336-003

chr11:
63832008-63832008

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MACROD1

mAGRE4908

chr11:
63766867-63766869

CAG

C

exonic

Maternal

frameshift deletion

NM_014067

c.825_826del

p.P275fs

-

-

Cirnigliaro2023 G

MACROD1

AU038204

chr11:
63864429-63864429

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MACROD1

3-0662-000

chr11:
63850273-63850275

CCT

C

intronic

De novo

-

-

Trost2022 G

MACROD1

MSSNG00221-003

chr11:
63855055-63855055

A

G

intronic

De novo

-

-

Trost2022 G

MACROD1

MT_18.3

chr11:
63824975-63824975

G

A

intronic

De novo

-

-

Trost2022 G

MACROD1

AM03ZF-03

chr11:
63830193-63830193

C

T

intronic

De novo

-

-

Trost2022 G

MACROD1

2-0307-003

chr11:
63811762-63811762

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MACROD1

MSSNG00020-004

chr11:
63812695-63812695

T

G

intronic

De novo

-

-

Trost2022 G

MACROD1

3-0835-000

chr11:
63819730-63819731

GA

G

intronic

De novo

-

-

Trost2022 G

MACROD1

SP0051228

chr11:
63767070-63767070

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

MACROD1

MSSNG00254-004

chr11:
63918476-63918476

C

T

intronic

De novo

-

-

Trost2022 G

MACROD1

3-0485-000A

chr11:
63890718-63890718

C

T

intronic

De novo

-

-

Trost2022 G

MACROD1

5-0085-003

chr11:
63909474-63909474

G

C

intronic

De novo

-

-

Trost2022 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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