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Results for "ABCA12"

Variant Events: 18

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
ABCA12     AU133Achr2:
215852457-215852457
CTexonicDe novononsynonymous SNVNM_015657
NM_173076
c.G2936A
c.G3890A
p.R979Q
p.R1297Q
12.518.32E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ABCA12     1-0345-004chr2:
215940012-215940012
AGintronicDe novo--Yuen2017 G
ABCA12     AU3190305chr2:
215923749-215923749
CTintronicDe novo--Yuen2017 G
ABCA12     2-0273-003chr2:
215949142-215949142
ATintronicDe novo--Yuen2017 G
ABCA12     2-1178-003chr2:
215831077-215831077
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ABCA12     1-0558-003chr2:
216139893-216139893
CAintergenicDe novo--Yuen2017 G
ABCA12     AU2427302chr2:
215853533-215853533
ATintronicDe novo--Yuen2017 G
ABCA12     AU3057301chr2:
216109691-216109691
GCintergenicDe novo--Yuen2017 G
ABCA12     2-1222-003chr2:
216025259-216025259
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
ABCA12     A32chr2:
216084429-216084429
CTintergenicDe novo--Wu2018 G
ABCA12     G01-GEA-132-HIchr2:
215809820-215809820
CTexonicDe novosynonymous SNVNM_015657
NM_173076
c.G6294A
c.G7248A
p.P2098P
p.P2416P
-8.736E-6Lim2017 E
Satterstrom2020 E
ABCA12     04C33621Achr2:
215846997-215846997
CGexonicDe novononsynonymous SNVNM_015657
NM_173076
c.G3539C
c.G4493C
p.R1180T
p.R1498T
18.69-Neale2012 E
ABCA12     2-1454-003chr2:
215944664-215944664
GAintronicDe novo--Yuen2017 G
ABCA12     14153.p1chr2:
216105329-216105329
CGintergenicDe novo--Turner2016 G
ABCA12     iHART1617chr2:
215840541-215840543
AAGAexonicPaternalframeshift deletionNM_015657
NM_173076
c.4393_4394del
c.5347_5348del
p.L1465fs
p.L1783fs
--Ruzzo2019 G
ABCA12     AU3839302chr2:
215839133-215839133
AGintronicDe novo--Yuen2017 G
ABCA12     2-0171-003chr2:
216036426-216036426
CTintergenicDe novo--Yuen2017 G
ABCA12     2-0013-003chr2:
216172688-216172688
GGATTACACCCintergenicDe 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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