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Results for "DPY19L4"

Variant Events: 18

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
DPY19L4     AU038703chr8:
95816010-95816010
TGintergenicDe novo--Yuen2017 G
DPY19L4     mAGRE5023chr8:
95800281-95800281
GAsplicingPaternalsplicing19.77-Cirnigliaro2023 G
DPY19L4     mAGRE1672chr8:
95800138-95800138
CAexonicUnknownstopgainNM_181787c.C1865Ap.S622X38.05.074E-5Cirnigliaro2023 G
DPY19L4     MSSNG00347-003chr8:
95751582-95751584
CATCintronicDe novo--Trost2022 G
DPY19L4     MSSNG00213-003chr8:
95778464-95778464
GAintronicDe novo--Trost2022 G
DPY19L4     REACH000194 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
DPY19L4     SP0123624chr8:
95800280-95800280
CTexonicDe novosynonymous SNVNM_181787c.C2007Tp.H669H-5.0E-4Trost2022 G
Zhou2022 GE
DPY19L4     2-1169-004chr8:
95812483-95812483
ATintergenicDe novo--Yuen2017 G
DPY19L4     3-0504-000chr8:
95774047-95774047
GAexonicDe novosynonymous SNVNM_181787c.G855Ap.V285V0.093-Tammimies2015 E
DPY19L4     SMHC01561s000chr8:
95777432-95777432
TCexonicDe novononsynonymous SNVNM_181787c.T892Cp.Y298H16.65-Yuan2023 E
DPY19L4     7-0322-003chr8:
95790184-95790184
CTintronicDe novo--Trost2022 G
DPY19L4     MSSNG00334-004chr8:
95797972-95797972
CTintronicDe novo--Trost2022 G
DPY19L4     MSSNG00414-003chr8:
95778728-95778728
CGintronicDe novo--Trost2022 G
DPY19L4     1-0903-004chr8:
95781534-95781534
CCGGGAintronicDe novo--Trost2022 G
DPY19L4     mAGRE4400chr8:
95738670-95738670
GAsplicingMaternalsplicing15.661.663E-5Cirnigliaro2023 G
DPY19L4     AU2117302chr8:
95814091-95814091
GAintergenicDe novo--Yuen2017 G
DPY19L4     AU0636303chr8:
95788963-95788963
CTintronicDe novo--Trost2022 G
Yuen2017 G
DPY19L4     iHART1672chr8:
95800138-95800138
CAexonicUnknownstopgainNM_181787c.C1865Ap.S622X38.05.074E-5Ruzzo2019 G
Source Variant Information

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Source:

Paper alias:

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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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