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Results for "BMPER"

Variant Events: 23

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
BMPER     AU1698301chr7:
34032963-34032963
GAintronicDe novo--Yuen2017 G
BMPER     AU3861302chr7:
34357580-34357580
CTintergenicDe novo--Yuen2017 G
BMPER     AU2293302chr7:
33985132-33985132
GTintronicDe novo--Yuen2017 G
BMPER     1-0272-003chr7:
34056394-34056394
AATintronicDe novo--Yuen2017 G
BMPER     AU4263304chr7:
34198262-34198262
CAintergenicDe novo--Yuen2017 G
BMPER     2-1355-004chr7:
34059287-34059287
GCintronicDe novo--Yuen2017 G
BMPER     160030chr7:
34101591-34101591
GTintronicDe novo-5.529E-5Satterstrom2020 E
BMPER     1-0196-005chr7:
34350606-34350606
GAintergenicDe novo--Yuen2017 G
BMPER     AU4310301chr7:
34232760-34232760
TCintergenicDe novo--Yuen2017 G
BMPER     AU3397302chr7:
34011645-34011645
GCintronicDe novo--Yuen2017 G
BMPER     12493.p1chr7:
34050601-34050601
AGintronicDe novo--Turner2016 G
BMPER     1-0563-003chr7:
34087430-34087430
ACintronicDe novo--Yuen2017 G
BMPER     2-1509-003chr7:
33975663-33975678
CCACACACACACACACCCACACACACACACACACintronicDe novo--Yuen2017 G
BMPER     AU1860302chr7:
34222990-34222990
AGintergenicDe novo--Yuen2017 G
BMPER     13889.p1chr7:
34129342-34129342
TCintronicDe novo--Werling2018 G
BMPER     1-0043-003chr7:
34076057-34076057
AGintronicDe novo--Yuen2017 G
BMPER     1-0559-004chr7:
34014715-34014715
ATintronicDe novo--Yuen2017 G
BMPER     1-0524-003chr7:
33987931-33987931
TCintronicDe novo--Yuen2016 G
Yuen2017 G
BMPER     7-0001-003chr7:
34016239-34016239
TCintronicDe novo--Yuen2017 G
BMPER     1-0534-003chr7:
34254732-34254732
GAintergenicDe novo--Yuen2017 G
BMPER     AU3646301chr7:
34294001-34294001
ATintergenicDe novo--Yuen2017 G
BMPER     AU3702307chr7:
34033917-34033917
CGintronicDe novo--Yuen2017 G
BMPER     1-0153-005chr7:
34012983-34012983
GAintronicDe 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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