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Results for "ZNF648"

Variant Events: 8

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
ZNF648     2-1297-003chr1:
182038119-182038119
GGAAAAGAAAAAAGAAAGAGAAAGAGGAAAGAGAintergenicDe novo--Yuen2017 G
ZNF648     12793.p1chr1:
182056883-182056883
CTintergenicDe novo--Turner2016 G
ZNF648     AU4032306chr1:
182052641-182052641
CTintergenicDe novo--Yuen2017 G
ZNF648     1-0068-003chr1:
182106145-182106145
GAintergenicDe novo--Yuen2017 G
ZNF648     NDAR_INVAK465EDQ_wes1chr1:
182026889-182026889
CTexonicDe novononsynonymous SNVNM_001009992c.G257Ap.S86N9.12-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ZNF648     2-0116-005chr1:
182143468-182143468
CTintergenicDe novo--Yuen2017 G
ZNF648     AU3849302chr1:
182083489-182083489
CTintergenicDe novo--Yuen2017 G
ZNF648     AU1542303chr1:
182083347-182083347
CTintergenicDe 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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