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Results for "TTF2"

Variant Events: 5

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
TTF2     NDAR_INVLA204TKP_wes1chr1:
117644154-117644154
TCUTR3De novo--Kosmicki2017 E
Satterstrom2020 E
TTF2     5069_202_childchr1:
117632812-117632812
CAexonicDe novononsynonymous SNVNM_003594c.C2478Ap.D826E17.06-Neale2012 E
TTF2     Cukier2014:37232chr1:
117633170-117633170
GAexonicUnknownnonsynonymous SNVNM_003594c.G2513Ap.R838H19.670.0042Cukier2014 E
TTF2     iHART1103chr1:
117618917-117618917
GAsplicingPaternalsplicing11.998.443E-6Ruzzo2019 G
TTF2     09C98146chr1:
117632812-117632812
CAexonicDe novononsynonymous SNVNM_003594c.C2478Ap.D826E17.06-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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