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Results for "NBPF8"

Variant Events: 27

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
NBPF8     AU049304chr1:
147999383-147999383
ATintronicDe novo--Yuen2017 G
NBPF8     2-0320-003chr1:
147999403-147999403
CTintronicDe novo--Yuen2017 G
NBPF8     AU031404chr1:
148018617-148018617
CGintronicDe novo--Yuen2017 G
NBPF8     AU031404chr1:
148187497-148187497
CTintronicDe novo--Yuen2017 G
NBPF8     1-0669-003chr1:
147723974-147723974
AGintronicDe novo--Yuen2017 G
NBPF8     AU030104chr1:
148019295-148019302
ATATATTTATintronicDe novo--Yuen2017 G
NBPF8     AU2485305chr1:
148009517-148009517
CAintronicDe novo2.0440.0238Yuen2017 G
NBPF8     7-0067-003chr1:
148004975-148004975
ATintronicDe novo--Yuen2017 G
NBPF8     7-0067-003chr1:
148005046-148005046
AGintronicDe novo--Yuen2017 G
NBPF8     AU4149301chr1:
148004975-148004975
ATintronicDe novo--Yuen2017 G
NBPF8     AU2485305chr1:
148010013-148010013
TAintronicDe novo--Yuen2017 G
NBPF8     AU2485305chr1:
148010017-148010017
TCintronicDe novo--Yuen2017 G
NBPF8     AU4347301chr1:
148245727-148245735
TTATATATATTATATATATAintronicDe novo--Yuen2017 G
NBPF8     08C78517chr1:
148017617-148017626
ATCCCAGGACAexonicDe novononframeshift deletionNM_001037501c.1677_1685delp.559_562del--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
NBPF8     2-1722-003chr1:
148004945-148004945
GCintronicDe novo--Yuen2017 G
NBPF8     7-0183-003chr1:
148009153-148009153
GAintronicDe novo--Yuen2017 G
NBPF8     2-1444-003chr1:
147808144-147808144
TCintronicDe novo--Yuen2017 G
NBPF8     2-1444-003chr1:
147808131-147808131
TCintronicDe novo--Yuen2017 G
NBPF8     AU4347301chr1:
148243189-148243194
TTTGTTTTTintronicDe novo--Yuen2017 G
NBPF8     AU3885304chr1:
148233392-148233392
TCintronicDe novo--Yuen2017 G
NBPF8     7-0253-004chr1:
148008682-148008682
ATintronicDe novo--Yuen2017 G
NBPF8     5-0083-003chr1:
147764054-147764054
GCintronicDe novo--Yuen2017 G
NBPF8     1-0554-003chr1:
147824224-147824224
CTintronicDe novo--Yuen2017 G
NBPF8     AU4027306chr1:
148239748-148239748
GAintronicDe novo--Yuen2017 G
NBPF8     AU3371301chr1:
148010017-148010017
TCintronicDe novo--Yuen2017 G
NBPF8     2-1422-003chr1:
147962875-147962875
ACintronicDe novo--Yuen2017 G
NBPF8     AU3371303chr1:
148010017-148010017
TCintronicDe 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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