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Results for "TRAPPC8"

Variant Events: 13

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
TRAPPC8     12449.p1chr18:
29411747-29411747
GCintronicDe novo--Turner2016 G
TRAPPC8     1-0150-003chr18:
29436703-29436703
GAintronicDe novo--Yuen2017 G
TRAPPC8     2-1425-004chr18:
29494996-29494996
GAintronicDe novo--Yuen2017 G
TRAPPC8     AU061003chr18:
29473406-29473412
ATTTTTTATTTTTintronicDe novo--Yuen2017 G
TRAPPC8     5-0117-003chr18:
29519696-29519696
TCintronicDe novo--Yuen2017 G
TRAPPC8     13844.p1chr18:
29444743-29444743
TCexonicDe novosynonymous SNVNM_014939c.A2592Gp.G864G--Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
TRAPPC8     3-0307-000chr18:
29445580-29445586
ATTTTTTATTTTTintronicDe novo--Yuen2017 G
TRAPPC8     1-0627-007chr18:
29529447-29529447
CGintergenicDe novo--Yuen2017 G
TRAPPC8     13560.p1chr18:
29432368-29432368
CAintronicDe novo--Krumm2015 E
TRAPPC8     AU2381302chr18:
29572623-29572623
CTintergenicDe novo--Yuen2017 G
TRAPPC8     1-0446-003chr18:
29500313-29500313
GAintronicDe novo--Yuen2017 G
TRAPPC8     AU3371301chr18:
29581984-29581984
CTintergenicDe novo--Yuen2017 G
TRAPPC8     AU3727302chr18:
29538830-29538831
GCGintergenicDe 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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