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Results for "MAD2L1"

Variant Events: 28

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
MAD2L1     7-0175-003chr4:
121567597-121567597
GAintergenicDe novo--Yuen2017 G
MAD2L1     2-0299-003chr4:
121447394-121447396
CTTCintergenicDe novo--Yuen2017 G
MAD2L1     3-0447-000 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2016 G
Yuen2017 G
Yuen2017 G
MAD2L1     AU3632301chr4:
121053461-121053461
CTintergenicDe novo--Yuen2017 G
MAD2L1     1-0208-003chr4:
120993818-120993818
CTintergenicDe novo--Yuen2017 G
MAD2L1     2-1406-003chr4:
121165778-121165778
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
MAD2L1     2-0043-003chr4:
121494930-121494930
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
MAD2L1     2-1480-003chr4:
121398281-121398281
ACintergenicDe novo--Yuen2017 G
MAD2L1     AU3680302chr4:
121196884-121196884
TAintergenicDe novo--Yuen2017 G
MAD2L1     AU4164301chr4:
121167155-121167159
TAAAATAAAintergenicDe novo--Yuen2017 G
MAD2L1     2-1709-003chr4:
120986716-120986716
TCintronicDe novo--Yuen2017 G
MAD2L1     1-0259-005chr4:
121337038-121337038
CGintergenicDe novo--Yuen2017 G
MAD2L1     2-1348-003chr4:
121170745-121170745
AGintergenicDe novo--Yuen2017 G
MAD2L1     AU3122301chr4:
121564055-121564055
CAintergenicDe novo--Yuen2017 G
MAD2L1     2-0110-003chr4:
120991910-120991911
CACintergenicDe novo--Yuen2016 G
Yuen2017 G
MAD2L1     A3chr4:
121421560-121421560
CTintergenicDe novo--Wu2018 G
MAD2L1     2-0210-004chr4:
121354021-121354021
ACintergenicDe novo--Yuen2017 G
MAD2L1     2-1562-003chr4:
121574960-121574960
TTAintergenicDe novo--Yuen2017 G
MAD2L1     7-0097-003chr4:
121611718-121611718
TGintergenicDe novo--Yuen2017 G
MAD2L1     AU039304chr4:
121466660-121466660
AGintergenicDe novo--Yuen2017 G
MAD2L1     A29chr4:
121300252-121300252
ATintergenicDe novo--Wu2018 G
MAD2L1     AU1848302chr4:
121402798-121402798
CGintergenicDe novo--Yuen2017 G
MAD2L1     74-0265chr4:
121091056-121091056
TCintergenicDe novo--Michaelson2012 G
MAD2L1     AU076808chr4:
121199243-121199243
CAintergenicDe novo--Yuen2017 G
MAD2L1     1-0469-003chr4:
121494656-121494656
AGintergenicDe novo--Yuen2017 G
MAD2L1     2-0144-004chr4:
121560180-121560191
GCAATAGAGCTCGintergenicDe novo--Yuen2017 G
MAD2L1     A1chr4:
121057958-121057958
TGintergenicDe novo--Wu2018 G
MAD2L1     2-0297-003chr4:
121316176-121316176
AGintergenicDe novo--Yuen2017 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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