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Results for "ANKRD20A5P"

Variant Events: 14

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
ANKRD20A5P   2-1633-003chr18:
14318926-14318926
CGintergenicDe novo--Yuen2017 G
ANKRD20A5P   AU2029302chr18:
14279633-14279633
CTintergenicDe novo--Yuen2017 G
ANKRD20A5P   AU043804chr18:
14252481-14252481
GTintergenicDe novo--Yuen2017 G
ANKRD20A5P   74-0115chr18:
14216252-14216252
ATncRNA_intronicDe novo--Michaelson2012 G
ANKRD20A5P   AU045010chr18:
14331120-14331120
GAintergenicDe novo--Yuen2017 G
ANKRD20A5P   5-0123-003chr18:
14194555-14194555
GAncRNA_intronicDe novo--Yuen2017 G
ANKRD20A5P   AU3729303chr18:
14264098-14264098
CTintergenicDe novo--Yuen2017 G
ANKRD20A5P   7-0223-003chr18:
14270982-14270982
GAintergenicDe novo--Yuen2017 G
ANKRD20A5P   AU3964302chr18:
14292919-14292919
AGintergenicDe novo--Yuen2017 G
ANKRD20A5P   08C79466chr18:
14187244-14187244
GAncRNA_intronicDe novo--Satterstrom2020 E
ANKRD20A5P   AU4394302chr18:
14320389-14320389
GCintergenicDe novo--Yuen2017 G
ANKRD20A5P   1-0986-003chr18:
14263215-14263216
CTCintergenicDe novo--Yuen2017 G
ANKRD20A5P   AU2029303chr18:
14279633-14279633
CTintergenicDe novo--Yuen2017 G
ANKRD20A5P   2-1444-003chr18:
14227717-14227717
GCdownstreamDe novo--Yuen2017 G
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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