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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     SP0078457chr1:
115215882-115215882
CTexonicDe novosynonymous SNVNM_001172626
NM_000036
c.G2184A
c.G2196A
p.K728K
p.K732K
--Fu2022 E
Trost2022 G
Zhou2022 GE
AMPD1     mAGRE5478chr1:
115220608-115220608
CAexonicPaternalstopgainNM_001172626
NM_000036
c.G1234T
c.G1246T
p.G412X
p.G416X
38.0-Cirnigliaro2023 G
AMPD1     SP0187744chr1:
115216264-115216264
TGexonicDe novononsynonymous SNVNM_001172626
NM_000036
c.A2168C
c.A2180C
p.H723P
p.H727P
20.8-Trost2022 G
AMPD1     mAGRE5477chr1:
115220608-115220608
CAexonicPaternalstopgainNM_001172626
NM_000036
c.G1234T
c.G1246T
p.G412X
p.G416X
38.0-Cirnigliaro2023 G
AMPD1     SP0028576chr1:
115220672-115220672
GGAintronicDe novo--Fu2022 E
AMPD1     mAGRE5744chr1:
115217465-115217465
GAexonicMaternalstopgainNM_001172626
NM_000036
c.C1795T
c.C1807T
p.R599X
p.R603X
19.08-Cirnigliaro2023 G
AMPD1     2-1250-003chr1:
115238090-115238090
CTexonicDe novononsynonymous SNVNM_000036
NM_001172626
c.G102A
c.G102A
p.M34I
p.M34I
15.95-Yuen2017 G
Zhou2022 GE
AMPD1     MSSNG00044-003chr1:
115222946-115222946
TCexonicDe novononsynonymous SNVNM_001172626
NM_000036
c.A788G
c.A800G
p.Y263C
p.Y267C
13.54-Trost2022 G
Zhou2022 GE
AMPD1     08C78500chr1:
115238090-115238090
CTexonicDe novononsynonymous SNVNM_000036
NM_001172626
c.G102A
c.G102A
p.M34I
p.M34I
15.95-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
AMPD1     AU10204chr1:
115217373-115217373
CCTexonicDe novoframeshift insertionNM_001172626
NM_000036
c.1886dupA
c.1898dupA
p.K629fs
p.K633fs
--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
AMPD1     SP0185938chr1:
115218284-115218284
AGexonicDe novononsynonymous SNVNM_001172626
NM_000036
c.T1633C
c.T1645C
p.S545P
p.S549P
27.4-Trost2022 G
Source Variant Information

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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 notesView
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