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Results for "BMP2K"

Variant Events: 9

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
BMP2K     AU4429301chr4:
79829906-79829906
TCintronicDe novo--Yuen2017 G
BMP2K     1-0835-003chr4:
79703019-79703019
GAintronicDe novo--Yuen2017 G
BMP2K     AU4235302chr4:
79789366-79789366
GGGTintronicDe novo--Yuen2017 G
BMP2K     AU3506303chr4:
79752482-79752482
AGintronicDe novo--Yuen2017 G
BMP2K     A24chr4:
79788674-79788674
CTintronicDe novo--Wu2018 G
BMP2K     21.s1chr4:
79832450-79832450
CTexonicDe novononsynonymous SNVNM_198892c.C2749Tp.P917S0.227-An2014 E
BMP2K     AU008505chr4:
79764147-79764147
CTintronicDe novo--Yuen2017 G
BMP2K     1-0572-003chr4:
79764642-79764642
GAintronicDe novo--Yuen2017 G
BMP2K     AU4197302chr4:
79746115-79746115
GTintronicDe 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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