Variant Results

or

Results for "AMPD1"

Variant Events: 11

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

AMPD1

mAGRE5478

chr1:
115220608-115220608

C

A

exonic

Paternal

stopgain

NM_001172626
NM_000036

c.G1234T
c.G1246T

p.G412X
p.G416X

38.0

-

Cirnigliaro2023 G

AMPD1

mAGRE5477

chr1:
115220608-115220608

C

A

exonic

Paternal

stopgain

NM_001172626
NM_000036

c.G1234T
c.G1246T

p.G412X
p.G416X

38.0

-

Cirnigliaro2023 G

AMPD1

mAGRE5744

chr1:
115217465-115217465

G

A

exonic

Maternal

stopgain

NM_001172626
NM_000036

c.C1795T
c.C1807T

p.R599X
p.R603X

19.08

-

Cirnigliaro2023 G

AMPD1

2-1250-003

chr1:
115238090-115238090

C

T

exonic

De novo

nonsynonymous SNV

NM_000036
NM_001172626

c.G102A
c.G102A

p.M34I
p.M34I

15.95

-

Yuen2017 G
Zhou2022 GE

AMPD1

MSSNG00044-003

chr1:
115222946-115222946

T

C

exonic

De novo

nonsynonymous SNV

NM_001172626
NM_000036

c.A788G
c.A800G

p.Y263C
p.Y267C

13.54

-

Trost2022 G
Zhou2022 GE

AMPD1

SP0078457

chr1:
115215882-115215882

C

T

exonic

De novo

synonymous SNV

NM_001172626
NM_000036

c.G2184A
c.G2196A

p.K728K
p.K732K

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AMPD1

SP0187744

chr1:
115216264-115216264

T

G

exonic

De novo

nonsynonymous SNV

NM_001172626
NM_000036

c.A2168C
c.A2180C

p.H723P
p.H727P

20.8

-

Trost2022 G

AMPD1

SP0028576

chr1:
115220672-115220672

G

GA

intronic

De novo

-

Fu2022 E

AMPD1

08C78500

chr1:
115238090-115238090

C

T

exonic

De novo

nonsynonymous SNV

NM_000036
NM_001172626

c.G102A
c.G102A

p.M34I
p.M34I

15.95

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AMPD1

AU10204

chr1:
115217373-115217373

C

CT

exonic

De novo

frameshift insertion

NM_001172626
NM_000036

c.1886dupA
c.1898dupA

p.K629fs
p.K633fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AMPD1

SP0185938

chr1:
115218284-115218284

A

G

exonic

De novo

nonsynonymous SNV

NM_001172626
NM_000036

c.T1633C
c.T1645C

p.S545P
p.S549P

27.4

-

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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