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Results for "AHCTF1"

Variant Events: 10

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
AHCTF1     1-0175-004chr1:
247032169-247032169
TCintronicDe novo--Yuen2017 G
AHCTF1     iHART3044chr1:
247024551-247024551
CTexonicDe novononsynonymous SNVNM_015446c.G3809Ap.C1270Y1.674-Ruzzo2019 G
AHCTF1     1-1004-003chr1:
247008310-247008310
TCintronicDe novo--Yuen2017 G
AHCTF1     1-0976-003chr1:
247054187-247054187
GCintronicDe novo--Yuen2017 G
AHCTF1     JASD_Fam0115chr1:
247014152-247014152
TCexonicDe novononsynonymous SNVNM_015446c.A5183Gp.Q1728R4.127-Takata2018 E
AHCTF1     A11chr1:
247009882-247009882
TCintronicDe novo--Wu2018 G
AHCTF1     1-0162-004chr1:
247079035-247079035
TCintronicDe novo--Yuen2017 G
AHCTF1     AU073003chr1:
247089619-247089619
GCintronicDe novo--Yuen2017 G
AHCTF1     AU2156303chr1:
247094241-247094241
AGintronicDe novo--Yuen2017 G
AHCTF1     AU3122301chr1:
247015449-247015449
CAintronicDe 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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