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Results for "SEC23A"

Variant Events: 7

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
SEC23A     14482.p1chr14:
39554885-39554885
ACintronicDe novo--Turner2016 G
SEC23A     09C89133chr14:
39514393-39514393
CTexonicDe novononsynonymous SNVNM_006364c.G1873Ap.A625T17.86-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SEC23A     1-0065-005chr14:
39508130-39508130
CAintronicDe novo--Yuen2017 G
SEC23A     7-0104-003chr14:
39559569-39559569
GCintronicDe novo--Yuen2017 G
SEC23A     iHART2585chr14:
39514528-39514529
ACAsplicingPaternalsplicing--Ruzzo2019 G
SEC23A     iHART2584chr14:
39514528-39514529
ACAsplicingPaternalsplicing--Ruzzo2019 G
SEC23A     iHART2587chr14:
39514528-39514529
ACAsplicingPaternalsplicing--Ruzzo2019 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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