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Results for "ABCA2"

Variant Events: 12

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
ABCA2     13993.p1chr9:
139912287-139912287
GAexonicDe novosynonymous SNVNM_001606
NM_212533
c.C2163T
c.C2253T
p.A721A
p.A751A
--Krumm2015 E
Satterstrom2020 E
ABCA2     iHART3196chr9:
139909184-139909184
TGexonicDe novononsynonymous SNVNM_001606
NM_212533
c.A3961C
c.A4051C
p.K1321Q
p.K1351Q
17.21-Ruzzo2019 G
ABCA2     14275.p1chr9:
139907554-139907554
GAexonicDe novosynonymous SNVNM_001606
NM_212533
c.C4767T
c.C4857T
p.F1589F
p.F1619F
-1.0E-4Krumm2015 E
Satterstrom2020 E
ABCA2     XH678chr9:
139904094-139904094
GAexonicDe novosynonymous SNVNM_001606
NM_212533
c.C6633T
c.C6723T
p.D2211D
p.D2241D
-1.0E-4Satterstrom2020 E
ABCA2     AU3839303chr9:
139909184-139909184
TGexonicDe novononsynonymous SNVNM_001606
NM_212533
c.A3961C
c.A4051C
p.K1321Q
p.K1351Q
17.21-Yuen2017 G
ABCA2     12225.p1chr9:
139906388-139906388
CTexonicDe novononsynonymous SNVNM_001606
NM_212533
c.G5443A
c.G5533A
p.V1815M
p.V1845M
15.358.46E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
ABCA2     12240.p1chr9:
139917312-139917312
GCexonicMosaic, De novononsynonymous SNVNM_001606
NM_212533
c.C281G
c.C371G
p.T94R
p.T124R
21.5-Dou2017 E
Ji2016 E
Krumm2015 E
Lim2017 E
ABCA2     1-0320-004chr9:
139917082-139917082
GCintronicDe novo--Yuen2017 G
ABCA2     13192.p1chr9:
139911824-139911824
CTintronicDe novo-2.583E-5Satterstrom2020 E
ABCA2     200675376@1082034681chr9:
139906686-139906686
GCintronicDe novo-2.0E-4Satterstrom2020 E
ABCA2     DEASD_1078_001chr9:
139910387-139910387
GGGCintronicDe novo--Satterstrom2020 E
ABCA2     13520.p1chr9:
139906930-139906930
CTintronicDe novo-2.546E-5Krumm2015 E
Satterstrom2020 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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