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Results for "GPAM"

Variant Events: 17

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
GPAM     4-0009-003chr10:
113929088-113929088
CTintronicDe novo--Trost2022 G
GPAM     SJD_75.3chr10:
113932280-113932280
TCintronicDe novo--Trost2022 G
GPAM     iHART2086chr10:
113928069-113928069
CGsplicingPaternalsplicing22.4-Ruzzo2019 G
GPAM     iHART1374chr10:
113914389-113914389
CTexonicDe novononsynonymous SNVNM_001244949
NM_020918
c.G2368A
c.G2368A
p.G790R
p.G790R
27.4-Ruzzo2019 G
GPAM     2-1440-003chr10:
114032613-114032613
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
GPAM     2-1306-003chr10:
113935045-113935046
TACCintronicDe novo--Trost2022 G
GPAM     1-0956-003chr10:
113939222-113939222
TAintronicDe novo--Trost2022 G
GPAM     SP0083226chr10:
113910968-113910968
CAUTR3De novo--Fu2022 E
Trost2022 G
GPAM     SP0049318chr10:
113928676-113928676
GCexonicDe novononsynonymous SNVNM_001244949
NM_020918
c.C829G
c.C829G
p.R277G
p.R277G
18.78-Fu2022 E
Trost2022 G
Zhou2022 GE
GPAM     JASD_Fam0002chr10:
113941493-113941493
GAexonicDe novononsynonymous SNVNM_001244949
NM_020918
c.C50T
c.C50T
p.P17L
p.P17L
18.04-Takata2018 E
GPAM     SP0075050chr10:
113918064-113918064
TGintronicDe novo--Fu2022 E
GPAM     SP0120159chr10:
113911893-113911893
ACUTR3De novo--Fu2022 E
GPAM     mAGRE5035chr10:
113942551-113942551
CTsplicingMaternalsplicing--Cirnigliaro2023 G
GPAM     mAGRE4904chr10:
113942551-113942551
CTsplicingPaternalsplicing--Cirnigliaro2023 G
GPAM     mAGRE4903chr10:
113942551-113942551
CTsplicingPaternalsplicing--Cirnigliaro2023 G
GPAM     mAGRE2086chr10:
113928069-113928069
CGsplicingPaternalsplicing22.4-Cirnigliaro2023 G
GPAM     mAGRE1374chr10:
113914389-113914389
CTexonicDe novononsynonymous SNVNM_001244949
NM_020918
c.G2368A
c.G2368A
p.G790R
p.G790R
27.4-Cirnigliaro2023 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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