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Results for "BMP15"

Variant Events: 6

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
BMP15     AU3903301chrX:
50780015-50780015
TCintergenicDe novo--Yuen2017 G
BMP15     1-0248-003chrX:
50724462-50724462
ATintergenicDe novo--Yuen2017 G
BMP15     1-0874-003chrX:
50664175-50664175
GAintergenicDe novo--Yuen2017 G
BMP15     11282.p1chrX:
50658760-50658760
CTexonicDe novononsynonymous SNVNM_005448c.C332Tp.T111I0.763-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
BMP15     AU4028302chrX:
50760673-50760673
GAintergenicDe novo--Yuen2017 G
BMP15     AU1328302chrX:
50653985-50653985
CTexonicUnknownnonsynonymous SNVNM_005448c.C202Tp.R68W11.830.001Chahrour2012 E
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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