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Results for "NACA"

Variant Events: 8

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
NACA     1-0197-003chr12:
57121239-57121242
ACTTAintergenicDe novo--Yuen2017 G
NACA     2-1338-003chr12:
57112883-57112883
TCintronicDe novo12.83-Yuen2017 G
NACA     11198.p1chr12:
57106655-57106655
AGexonicDe novononsynonymous SNVNM_001113202
NM_001113203
c.T548C
c.T2678C
p.L183S
p.L893S
18.09-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
NACA     11138.p1chr12:
57110035-57110035
CAintronicDe novo12.08-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NACA     08C75780chr12:
57114218-57114218
CTexonicDe novononsynonymous SNVNM_001113203c.G1096Ap.V366I15.358.418E-6Satterstrom2020 E
NACA     12424.p1chr12:
57110443-57110443
GAintronicDe novo8.422-Satterstrom2020 E
NACA     SSC04859chr12:
57110443-57110443
GAintronicDe novo8.422-Lim2017 E
NACA     SSC00075chr12:
57110035-57110035
CAintronicDe novo12.08-Lim2017 E
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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