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Results for "MPPED1"

Variant Events: 17

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
MPPED1     AU2793301chr22:
43847653-43847653
GTintronicDe novo--Trost2022 G
Yuen2017 G
MPPED1     SP0079350chr22:
43901527-43901527
CTUTR3De novo-4.09E-5Fu2022 E
MPPED1     SP0085594chr22:
43808133-43808133
GAUTR5De novo--Fu2022 E
Trost2022 G
MPPED1     1-0206-005chr22:
43868682-43868682
CTintronicDe novo--Trost2022 G
Yuen2017 G
MPPED1     4-0062-003chr22:
43883252-43883253
TGCAintronicDe novo--Trost2022 G
MPPED1     1-0196-005chr22:
43910372-43910376
TAAAATAAAintergenicDe novo--Yuen2017 G
MPPED1     AU059003chr22:
43880787-43880787
TAintronicDe novo--Trost2022 G
MPPED1     2-0043-003chr22:
43828105-43828105
GCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MPPED1     AM04ZF-03chr22:
43871443-43871443
TCintronicDe novo--Trost2022 G
MPPED1     REACH000639chr22:
43843621-43843621
CTintronicDe novo--Trost2022 G
MPPED1     REACH000697chr22:
43809398-43809398
ATintronicDe novo--Trost2022 G
MPPED1     1-0400-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
MPPED1     1-0669-003chr22:
43814394-43814394
CAintronicDe novo--Trost2022 G
Yuen2017 G
MPPED1     2-0309-005chr22:
43871560-43871560
GGAintronicDe novo--Yuen2017 G
MPPED1     AU050704chr22:
43896178-43896178
GAintronicDe novo--Trost2022 G
MPPED1     7-0197-003chr22:
43847151-43847151
CTintronicDe novo--Trost2022 G
Yuen2017 G
MPPED1     1-0263-003Bchr22:
43891391-43891391
GAintronicDe 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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