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Results for "PROSER1"

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
PROSER1     111299chr13:
39597191-39597191
GCexonicnonsynonymous SNVNM_025138c.C641Gp.P214R27.2-Woodbury-Smith2022 E
PROSER1     12396.p1chr13:
39603410-39603414
ATACTAintronic--Zhou2022 GE
PROSER1     mAGRE1461chr13:
39586225-39586225
GAexonicPaternalstopgainNM_025138c.C2707Tp.Q903X46.03.296E-5Cirnigliaro2023 G
PROSER1     5-5152-003chr13:
39602384-39602384
AGexonicDe novononsynonymous SNVNM_025138c.T349Cp.C117R18.78-Trost2022 G
Zhou2022 GE
PROSER1     4771021312387-Cchr13:
39587757-39587757
GAexonicDe novosynonymous SNVNM_025138c.C1632Tp.P544P-4.943E-5Fu2022 E
PROSER1     1638001chr13:
39605804-39605804
TCintronicDe novo8.816-Satterstrom2020 E
Trost2022 G
PROSER1     5-0071-003chr13:
39600375-39600375
CGintronicDe novo--Trost2022 G
Yuen2017 G
PROSER1     AU3811301chr13:
39611659-39611659
GAUTR5De novo--Trost2022 G
Trost2022 G
Yuen2017 G
PROSER1     iHART1461chr13:
39586225-39586225
GAexonicPaternalstopgainNM_025138c.C2707Tp.Q903X46.03.296E-5Ruzzo2019 G
PROSER1     SP0142390chr13:
39605771-39605771
GAintronicDe novo22.6-Fu2022 E
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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