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Results for "MMD"

Variant Events: 18

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
MMD     2-1196-003chr17:
53673367-53673367
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
MMD     2-0225-004chr17:
53596709-53596709
GAintergenicDe novo--Yuen2017 G
MMD     iHART2956chr17:
53471727-53471727
GAexonicPaternalstopgainNM_012329c.C685Tp.R229X37.0-Ruzzo2019 G
MMD     1-0209-003chr17:
53557892-53557896
CTGGTCTintergenicDe novo--Yuen2017 G
MMD     11456.p1chr17:
53686538-53686538
GCintergenicDe novo--Turner2016 G
MMD     2-1368-003chr17:
53714459-53714459
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
MMD     5-0147-003chr17:
53497453-53497453
TCintronicDe novo--Yuen2017 G
MMD     2-0149-005chr17:
53794902-53794902
GCintergenicDe novo--Yuen2017 G
MMD     AU1725306chr17:
53572753-53572753
CAintergenicDe novo--Yuen2017 G
MMD     AU4410302chr17:
53606896-53606898
AGGAGintergenicDe novo--Yuen2017 G
MMD     7-0044-003chr17:
53507540-53507540
CTintergenicDe novo--Yuen2017 G
MMD     2-1277-004chr17:
53492994-53492994
GAintronicDe novo--Yuen2017 G
MMD     2-1350-004chr17:
53791088-53791088
TCintergenicDe novo--Yuen2017 G
MMD     60-2027chr17:
53742909-53742909
ATintergenicDe novo--Michaelson2012 G
MMD     AU069603chr17:
53646353-53646353
CTintergenicDe novo--Yuen2017 G
MMD     2-0242-005chr17:
53712126-53712126
AGintergenicDe novo--Yuen2017 G
MMD     AU2951303chr17:
53776796-53776796
TGintergenicDe novo--Yuen2017 G
MMD     2-1220-003chr17:
53729329-53729329
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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