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Results for "PHF14"

Variant Events: 19

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
PHF14     2-1475-003chr7:
11081124-11081124
GAintronicDe novo--Yuen2017 G
PHF14     AU4234302chr7:
11267048-11267048
GAintergenicDe novo--Yuen2017 G
PHF14     AU058104chr7:
11160492-11160492
TCintergenicDe novo--Yuen2017 G
PHF14     2-1210-003chr7:
11077640-11077640
CTintronicDe novo--Yuen2017 G
PHF14     1-0674-004chr7:
11052946-11052946
GAintronicDe novo--Yuen2017 G
PHF14     AU058105chr7:
11027603-11027603
AGintronicDe novo--Yuen2017 G
PHF14     1-0377-003chr7:
11201688-11201688
TTAintergenicDe novo--Yuen2017 G
PHF14     1-0553-003chr7:
11244018-11244018
CTintergenicDe novo--Yuen2017 G
PHF14     PN400203chr7:
11078433-11078433
GAexonicDe novononsynonymous SNVNM_014660c.G2027Ap.R676Q17.53.14E-5Leblond2019 E
PHF14     2-1730-003chr7:
11013604-11013604
AGUTR5De novo--Yuen2017 G
PHF14     2-0135-004chr7:
11079951-11079951
GAintronicDe novo--Yuen2017 G
PHF14     AU050604chr7:
11167346-11167346
TCintergenicDe novo--Yuen2017 G
PHF14     AU3125301chr7:
11132402-11132402
CGintronicDe novo--Yuen2017 G
PHF14     AU060703chr7:
11179174-11179174
GTintergenicDe novo--Yuen2017 G
PHF14     F10290-1chr7:
11022655-11022655
GAexonicDe novononsynonymous SNVNM_014660c.G769Ap.E257K14.87-Satterstrom2020 E
PHF14     AU4233301chr7:
11205229-11205229
TCintergenicDe novo--Yuen2017 G
PHF14     AU012803chr7:
11081364-11081364
AGintronicDe novo--Yuen2017 G
PHF14     SP0001365chr7:
11030426-11030426
GAexonicDe novononsynonymous SNVNM_014660c.G997Ap.A333T13.292.0E-4Feliciano2019 E
PHF14     AU4176302chr7:
11279998-11279998
GTintergenicDe 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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