Variant Results

or

Results for "AMZ1"

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

AMZ1

AU1542303

chr7:
2740380-2740380

C

T

exonic

Paternal

stopgain

NM_001284355
NM_133463

c.C295T
c.C295T

p.Q99X
p.Q99X

38.0

1.0E-4

Cirnigliaro2023 G

AMZ1

13077.p1

chr7:
2740384-2740384

C

T

exonic

nonsynonymous SNV

NM_001284355
NM_133463

c.C299T
c.C299T

p.P100L
p.P100L

19.6

5.06E-5

Zhou2022 GE

AMZ1

13322.p1

chr7:
2748240-2748243

TGAA

T

exonic

De novo

nonframeshift deletion

NM_001284355
NM_133463

c.492_494del
c.492_494del

p.164_165del
p.164_165del

-

5.0E-4

Dong2014 E
Ji2016 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

AMZ1

AU1725306

chr7:
2751868-2751868

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AMZ1

12805.p1

chr7:
2748804-2748804

G

A

exonic

De novo

nonsynonymous SNV

NM_133463

c.G697A

p.G233S

7.766

8.0E-4

Iossifov2014 E
Kosmicki2017 E
Wilfert2021 G
Zhou2022 GE

AMZ1

mAGRE5776

chr7:
2748879-2748879

G

A

splicing

Paternal

splicing

18.28

3.371E-5

Cirnigliaro2023 G

AMZ1

mAGRE5775

chr7:
2748879-2748879

G

A

splicing

Paternal

splicing

18.28

3.371E-5

Cirnigliaro2023 G

AMZ1

iHART2202

chr7:
2740380-2740380

C

T

exonic

Paternal

stopgain

NM_001284355
NM_133463

c.C295T
c.C295T

p.Q99X
p.Q99X

38.0

1.0E-4

Ruzzo2019 G

AMZ1

5-0023-003

chr7:
2762240-2762240

C

T

intergenic

De novo

-

Trost2022 G

AMZ1

7-0335-003

chr7:
2755988-2755988

G

A

downstream

De novo

-

Trost2022 G

AMZ1

SP0028813

chr7:
2748767-2748767

C

G

exonic

De novo

nonsynonymous SNV

NM_133463

c.C660G

p.S220R

16.15

3.652E-5

Fu2022 E
Zhou2022 GE

AMZ1

1-1123-003

chr7:
2758314-2758314

C

G

intergenic

De novo

-

Trost2022 G

AMZ1

AU4152303

chr7:
2723741-2723741

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AMZ1

2-1451-003

chr7:
2750953-2750957

CCACT

TTAAA

intronic

De novo

-

Trost2022 G

AMZ1

1-1123-003

chr7:
2754704-2754704

G

T

UTR3

De novo

-

Trost2022 G

AMZ1

SSC07028

chr7:
2748240-2748243

TGAA

T

exonic

De novo

nonframeshift deletion

NM_001284355
NM_133463

c.492_494del
c.492_494del

p.164_165del
p.164_165del

-

5.0E-4

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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