Variant Results

or

or

Results for "NOD1"

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

NOD1

iHART1146

chr7:
30491640-30491640

G

A

exonic

Maternal

stopgain

NM_006092

c.C1393T

p.Q465X

35.0

Ruzzo2019 G

NOD1

12175.p1

chr7:
30490527-30490527

A

G

intronic

De novo

-

-

Turner2016 G

NOD1

iHART1145

chr7:
30491640-30491640

G

A

exonic

Maternal

stopgain

NM_006092

c.C1393T

p.Q465X

35.0

Ruzzo2019 G

NOD1

mAGRE1146

chr7:
30491640-30491640

G

A

exonic

Maternal

stopgain

NM_006092

c.C1393T

p.Q465X

35.0

Cirnigliaro2023 G

NOD1

MSSNG00418-003

chr7:
30513367-30513367

G

A

intronic

De novo

-

-

Trost2022 G

NOD1

mAGRE1145

chr7:
30491640-30491640

G

A

exonic

Maternal

stopgain

NM_006092

c.C1393T

p.Q465X

35.0

Cirnigliaro2023 G

NOD1

AU1542301

chr7:
30491490-30491490

A

AC

exonic

Maternal

frameshift insertion

NM_006092

c.1542dupG

p.F515fs

-

Cirnigliaro2023 G

NOD1

1-0677-003

chr7:
30492202-30492202

G

A

exonic

De novo

synonymous SNV

NM_006092

c.C831T

p.H277H

3.055

Trost2022 G
Yuen2017 G

NOD1

MSSNG00033-005

chr7:
30501228-30501228

G

A

intronic

De novo

-

-

Trost2022 G

NOD1

SP0009755

chr7:
30508520-30508520

G

A

intronic

De novo

-

-

Trost2022 G

NOD1

iHART2200

chr7:
30491490-30491490

A

AC

exonic

Maternal

frameshift insertion

NM_006092

c.1542dupG

p.F515fs

-

Ruzzo2019 G

NOD1

618998486080-C

chr7:
30496362-30496362

C

A

exonic

De novo

nonsynonymous SNV

NM_006092

c.G176T

p.C59F

13.86

-

Fu2022 E

NOD1

SP0028791

chr7:
30485738-30485738

T

A

intronic

De novo

-

-

Trost2022 G

NOD1

1-1224-003

chr7:
30498732-30498732

T

G

intronic

De novo

-

-

Trost2022 G

NOD1

11432.p1

chr7:
30486597-30486597

G

A

exonic

De novo, Mosaic

synonymous SNV

NM_006092

c.C2355T

p.G785G

-

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NOD1

SP0028791

chr7:
30485734-30485734

T

A

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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