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Results for "TFCP2L1"

Variant Events: 11

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
TFCP2L1     11393.p1chr2:
121981826-121981826
GAUTR3Mosaic--Dou2017 E
TFCP2L1     AU4462302chr2:
122065719-122065719
CAintergenicDe novo--Yuen2017 G
TFCP2L1     5-0071-003chr2:
122057793-122057793
TCintergenicDe novo--Yuen2017 G
TFCP2L1     1-0253-004chr2:
122093067-122093067
CTintergenicDe novo--Yuen2017 G
TFCP2L1     1-0448-003chr2:
122018290-122018291
CTCintronicDe novo--Yuen2017 G
TFCP2L1     2-0272-004chr2:
122057813-122057813
TCintergenicDe novo--Yuen2017 G
TFCP2L1     1-0169-004chr2:
122090414-122090414
GAintergenicDe novo--Yuen2017 G
TFCP2L1     2-1373-003chr2:
122055590-122055590
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
TFCP2L1     AU4093302chr2:
122042498-122042498
CGintronicDe novo--Yuen2017 G
TFCP2L1     2-1180-003chr2:
122068465-122068465
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
TFCP2L1     2-1567-003chr2:
122057080-122057080
ATintergenicDe 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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