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Results for "MUM1"

Variant Events: 11

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
MUM1     SP0048783chr19:
1373172-1373172
CTintronicDe novo-7.496E-5Fu2022 E
Trost2022 G
MUM1     SP0069620 Complex Event; expand row to view variants  De novo--Fu2022 E
Trost2022 G
Trost2022 G
MUM1     74-0352chr19:
1359503-1359503
TCintronicDe novo--Michaelson2012 G
MUM1     SP0057168chr19:
1373166-1373166
CTintronicDe novo-2.782E-5Fu2022 E
Trost2022 G
Zhou2022 GE
MUM1     1-0593-003chr19:
1366149-1366149
CTintronicDe novo--Trost2022 G
Yuen2017 G
MUM1     SP0057096chr19:
1370774-1370774
CTexonicDe novosynonymous SNVNM_032853c.C1686Tp.P562P-2.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
MUM1     SP0012099chr19:
1360206-1360206
GCexonicDe novononsynonymous SNVNM_032853c.G289Cp.D97H14.72-Fu2022 E
Zhou2022 GE
MUM1     mAGRE5290chr19:
1367157-1367157
AGsplicingMaternalsplicing13.94-Cirnigliaro2023 G
MUM1     2-1318-004chr19:
1367809-1367811
CATTAintronicDe novo--Trost2022 G
MUM1     AU3122301chr19:
1364060-1364060
CAintronicDe novo--Yuen2017 G
MUM1     MSSNG00421-007chr19:
1363653-1363653
CTintronicDe novo--Trost2022 G
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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