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Results for "DSPP"

Variant Events: 10

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
DSPP     111305chr4:
88535225-88535225
TCexonicnonsynonymous SNVNM_014208c.T1411Cp.S471P5.021-Woodbury-Smith2022 E
DSPP     200675573@1082035017chr4:
88536868-88536868
TCexonicDe novosynonymous SNVNM_014208c.T3054Cp.S1018S-2.0E-4Satterstrom2020 E
DSPP     CC967.201chr4:
88535760-88535760
AGexonicDe novononsynonymous SNVNM_014208c.A1946Gp.D649G1.825-Lim2017 E
Satterstrom2020 E
DSPP     G01_GEA504HIchr4:
88537018-88537018
TGexonicDe novononsynonymous SNVNM_014208c.T3204Gp.D1068E4.502-Fu2022 E
DSPP     14184.p1chr4:
88537421-88537421
GTexonicDe novononsynonymous SNVNM_014208c.G3607Tp.D1203Y0.018-Krumm2015 E
DSPP     12035_p1chr4:
88537432-88537432
TTAGCAGTGACexonicDe novononframeshift insertionNM_014208c.3618_3619insAGCAGTGACp.D1206delinsDSSD-0.0023Fu2022 E
DSPP     Codina-Sola2015:ASD_32chr4:
88536542-88536551
AACAGCAGTGAexonicUnknownnonframeshift deletionNM_014208c.2729_2737delp.910_913del-0.0768Codina-Sola2015 E
DSPP     2-1276-003chr4:
88557512-88557512
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
DSPP     200675573_1082035017chr4:
88536868-88536868
TCexonicDe novosynonymous SNVNM_014208c.T3054Cp.S1018S-2.0E-4Fu2022 E
DSPP     CC967_201chr4:
88535760-88535760
AGexonicDe novononsynonymous SNVNM_014208c.A1946Gp.D649G1.825-Fu2022 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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