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Results for "YLPM1"

Variant Events: 29

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     SP0051228chr14:
75283417-75283417
GAintronicDe novo--Fu2022 E
YLPM1     SP0017302chr14:
75231145-75231145
TCintronicDe novo--Fu2022 E
Trost2022 G
YLPM1     AU2427303chr14:
75258919-75258919
TAintronicDe novo--Trost2022 G
Yuen2017 G
YLPM1     SP0090257chr14:
75295892-75295892
TCintronicDe novo--Fu2022 E
Trost2022 G
YLPM1     Wang2023:214chr14:
75230946-75230946
GGCexonicDe novoframeshift insertionNM_019589c.755dupCp.A252fs-1.0E-4Wang2023 E
YLPM1     1-0054-003chr14:
75277179-75277179
AGintronicDe novo--Trost2022 G
Yuen2017 G
YLPM1     133-06-105345chr14:
75265326-75265326
GAexonicDe novononsynonymous SNVNM_019589c.G3326Ap.R1109Q15.468.384E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
YLPM1     SP0143930chr14:
75230122-75230122
CTUTR5De novo--Fu2022 E
Trost2022 G
YLPM1     SP0032002chr14:
75230311-75230311
CAexonicDe novononsynonymous SNVNM_019589c.C119Ap.T40K11.84-Fu2022 E
Trost2022 G
Zhou2022 GE
YLPM1     11947.p1chr14:
75278299-75278302
AGCGAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
YLPM1     AU4186302chr14:
75239147-75239147
CTintronicDe novo--Trost2022 G
Yuen2017 G
YLPM1     427-09-112186chr14:
75265702-75265702
TCexonicDe novosynonymous SNVNM_019589c.T3702Cp.Y1234Y--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
YLPM1     9-0027-003chr14:
75278147-75278147
CCTGCATTGintronicDe novo--Trost2022 G
YLPM1     AU3712301chr14:
75277280-75277280
GCintronicDe novo--Trost2022 G
Yuen2017 G
YLPM1     1-0853-003chr14:
75284920-75284920
GCintronicDe novo--Trost2022 G
YLPM1     4651_16auchr14:
75265038-75265038
AGexonicDe novononsynonymous SNVNM_019589c.A3038Gp.N1013S4.128-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
YLPM1     SP0206998chr14:
75276505-75276505
GAintronicDe novo--Trost2022 G
YLPM1     1-0644-003chr14:
75277292-75277292
GAintronicDe novo--Trost2022 G
YLPM1     SJD_75.3chr14:
75246810-75246810
GAintronicDe novo--Trost2022 G
YLPM1     MSSNG00015-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
YLPM1     2-0219-004chr14:
75278147-75278147
CCTGCATTGintronicDe novo--Trost2022 G
Yuen2017 G
YLPM1     SP0244320chr14:
75294711-75294711
AGintronicDe novo--Trost2022 G
YLPM1     DEASD_0346_001chr14:
75266198-75266198
CTexonicDe novononsynonymous SNVNM_019589c.C4198Tp.R1400W16.761.0E-4DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
YLPM1     TRE_600chr14:
75248688-75248688
GCexonicDe novononsynonymous SNVNM_019589c.G1942Cp.A648P11.69-Fu2022 E
YLPM1     AU4243302chr14:
75276003-75276003
AGintronicDe novo--Trost2022 G
Yuen2017 G
YLPM1     2-1577-003chr14:
75306736-75306736
CAintergenicDe novo--Yuen2017 G
YLPM1     156-3925chr14:
75248524-75248524
CAexonicInheritednonsynonymous SNVNM_019589c.C1778Ap.P593Q13.956.652E-5Patowary2019 E
YLPM1     TAS_F5017Xchr14:
75283895-75283895
AGsplicingDe novosplicing20.4-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
YLPM1     SP0089388chr14:
75277107-75277107
CTexonicDe novostopgainNM_019589c.C5212Tp.R1738X42.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
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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