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Results for "ABCA3"

Variant Events: 10

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
ABCA3     11793.p1chr16:
2347351-2347351
GTexonicDe novononsynonymous SNVNM_001089c.C2242Ap.L748M14.88-Ji2016 E
Krumm2015 E
ABCA3     2-0110-003chr16:
2335329-2335329
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ABCA3     P1119chr16:
2334337-2334337
CAexonicDe novostopgainNM_001089c.G3805Tp.E1269X47.0-Hashimoto2016 E
ABCA3     2-0110-003chr16:
2332605-2332605
GAintronicDe novo--Yuen2016 G
ABCA3     13013.p1chr16:
2374571-2374571
GAintronicDe novo-1.689E-5Satterstrom2020 E
ABCA3     7902-01-007chr16:
2358548-2358548
GAexonicDe novosynonymous SNVNM_001089c.C1188Tp.Y396Y--Satterstrom2020 E
ABCA3     PN400102chr16:
2367764-2367764
TAexonicUnknownnonsynonymous SNVNM_001089c.A875Tp.E292V25.00.0022Leblond2019 E
ABCA3     AU4394302chr16:
2374447-2374447
GCexonicDe novononsynonymous SNVNM_001089c.C405Gp.F135L20.4-Yuen2017 G
ABCA3     AU4468301chr16:
2385599-2385599
GCintronicDe novo--Yuen2017 G
ABCA3     13493.p1chr16:
2349111-2349111
CTintronicInherited--Wilfert2021 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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