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Results for "ANKRD30A"

Variant Events: 16

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
ANKRD30A     2-1335-003chr10:
37591319-37591319
TCintergenicDe novo--Yuen2017 G
ANKRD30A     2-1399-003chr10:
37540727-37540727
GAintergenicDe novo--Yuen2017 G
ANKRD30A     Cukier2014:7435chr10:
37419292-37419292
GTexonicUnknownstopgainNM_052997c.G328Tp.E110X18.430.0119Cukier2014 E
ANKRD30A     A18chr10:
37584621-37584621
GCintergenicDe novo--Wu2018 G
ANKRD30A     ASP022chr10:
37442563-37442563
AGexonicDe novononsynonymous SNVNM_052997c.A1603Gp.I535V0.0014.0E-4Lim2017 E
ANKRD30A     Cukier2014:37232chr10:
37508345-37508345
GTexonicUnknownnonsynonymous SNVNM_052997c.G3537Tp.M1179I2.587-Cukier2014 E
ANKRD30A     2-1397-003chr10:
37518973-37518973
CTintronicDe novo--Yuen2017 G
ANKRD30A     2-0244-004chr10:
37555167-37555168
ATAintergenicDe novo--Yuen2017 G
ANKRD30A     AU0540301chr10:
37482637-37482637
TGintronicDe novo--Yuen2017 G
ANKRD30A     AU2427303chr10:
37446421-37446421
GCintronicDe novo--Yuen2017 G
ANKRD30A     AU2485305chr10:
37554163-37554163
CAintergenicDe novo--Yuen2017 G
ANKRD30A     AU2139305chr10:
37467180-37467180
CTintronicDe novo--Yuen2017 G
ANKRD30A     AU3761301chr10:
37497258-37497258
TCintronicDe novo--Yuen2017 G
ANKRD30A     2-1210-003chr10:
37541890-37541890
TGintergenicDe novo--Yuen2017 G
ANKRD30A     AU2109301chr10:
37428301-37428304
TAAATAintronicDe novo--Yuen2017 G
ANKRD30A     AU4093304chr10:
37467531-37467531
CGintronicDe novo--Yuen2017 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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