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Results for "YLPM1"

Variant Events: 14

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
YLPM1     2-0219-004chr14:
75278147-75278147
CCTGCATTGintronicDe novo--Yuen2017 G
YLPM1     AU2427303chr14:
75258919-75258919
TAintronicDe novo--Yuen2017 G
YLPM1     1-0054-003chr14:
75277179-75277179
AGintronicDe novo--Yuen2017 G
YLPM1     133-06-105345chr14:
75265326-75265326
GAexonicDe novononsynonymous SNVNM_019589c.G3326Ap.R1109Q15.468.384E-6Satterstrom2020 E
YLPM1     DEASD_0346_001chr14:
75266198-75266198
CTexonicDe novononsynonymous SNVNM_019589c.C4198Tp.R1400W16.761.0E-4DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
YLPM1     AU4243302chr14:
75276003-75276003
AGintronicDe novo--Yuen2017 G
YLPM1     11947.p1chr14:
75278299-75278302
AGCGAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
YLPM1     2-1577-003chr14:
75306736-75306736
CAintergenicDe novo--Yuen2017 G
YLPM1     AU4186302chr14:
75239147-75239147
CTintronicDe novo--Yuen2017 G
YLPM1     156-3925chr14:
75248524-75248524
CAexonicInheritednonsynonymous SNVNM_019589c.C1778Ap.P593Q13.956.652E-5Patowary2019 E
YLPM1     427-09-112186chr14:
75265702-75265702
TCexonicDe novosynonymous SNVNM_019589c.T3702Cp.Y1234Y--Satterstrom2020 E
YLPM1     AU3712301chr14:
75277280-75277280
GCintronicDe novo--Yuen2017 G
YLPM1     4651_16auchr14:
75265038-75265038
AGexonicDe novononsynonymous SNVNM_019589c.A3038Gp.N1013S4.128-Satterstrom2020 E
YLPM1     TAS_F5017Xchr14:
75283895-75283895
AGsplicingDe novosplicing20.4-Satterstrom2020 E
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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