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Results for "ABCC8"

Variant Events: 26

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
ABCC8     2-1417-003chr11:
17437635-17437635
TCintronicDe novo--Trost2022 G
Yuen2017 G
ABCC8     AU4250301chr11:
17449426-17449426
GAexonicDe novononsynonymous SNVNM_000352
NM_001287174
c.C2104T
c.C2104T
p.R702C
p.R702C
16.722.0E-4Trost2022 G
Yuen2017 G
Zhou2022 GE
ABCC8     SP0117016chr11:
17418782-17418782
CTexonicDe novononsynonymous SNVNM_000352
NM_001287174
c.G3946A
c.G3949A
p.G1316R
p.G1317R
12.3-Fu2022 E
Trost2022 G
Zhou2022 GE
ABCC8     13946.p1chr11:
17464991-17464991
GAintronicDe novo--Turner2016 G
ABCC8     SP0082999chr11:
17464735-17464735
CTexonicDe novononsynonymous SNVNM_000352
NM_001287174
c.G1457A
c.G1457A
p.R486Q
p.R486Q
18.583.296E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ABCC8     SP0076954chr11:
17452455-17452455
CTexonicDe novononsynonymous SNVNM_000352
NM_001287174
c.G1723A
c.G1723A
p.V575M
p.V575M
23.52.471E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ABCC8     SP0007272chr11:
17449802-17449802
GTintronicDe novo--Fu2022 E
ABCC8     SP0090984chr11:
17496588-17496588
CTintronicDe novo--Fu2022 E
Trost2022 G
ABCC8     SP0052158chr11:
17449997-17449997
GAintronicDe novo--Fu2022 E
ABCC8     2-1335-004chr11:
17511742-17511742
CGintergenicDe novo--Yuen2017 G
ABCC8     JASD_Fam0235chr11:
17436882-17436882
CCTexonicDe novoframeshift insertionNM_000352
NM_001287174
c.2259dupA
c.2262dupA
p.E754fs
p.E755fs
--Takata2018 E
ABCC8     2-0149-005chr11:
17451620-17451620
GAintronicDe novo--Trost2022 G
Yuen2017 G
ABCC8     5-5127-003chr11:
17460087-17460087
CTintronicDe novo--Trost2022 G
ABCC8     1-0217-003chr11:
17475338-17475338
GAintronicDe novo--Trost2022 G
ABCC8     AU4496301chr11:
17504524-17504524
TAintergenicDe novo--Yuen2017 G
ABCC8     SP0054084chr11:
17438434-17438434
CAintronicDe novo--Trost2022 G
ABCC8     7-0235-003chr11:
17451653-17451653
CAintronicDe novo--Trost2022 G
ABCC8     SP0145368chr11:
17415895-17415895
AGexonicDe novononsynonymous SNVNM_000352
NM_001287174
c.T4463C
c.T4466C
p.L1488P
p.L1489P
23.4-Trost2022 G
ABCC8     1-0853-003chr11:
17418401-17418401
GAintronicDe novo--Trost2022 G
ABCC8     Miyake2023:11935chr11:
17418804-17418804
CCCexonicUnknownframeshift insertionNM_000352
NM_001287174
c.3924dupG
c.3927dupG
p.L1308fs
p.L1309fs
--Miyake2023 E
ABCC8     Miyake2023:11935chr11:
17482154-17482154
GAexonicUnknownnonsynonymous SNVNM_000352
NM_001287174
c.C892T
c.C892T
p.R298C
p.R298C
21.21.0E-4Miyake2023 E
ABCC8     1-0010-003chr11:
17483370-17483370
TAexonicDe novononsynonymous SNVNM_000352
NM_001287174
c.A582T
c.A582T
p.R194S
p.R194S
15.08.256E-6Trost2022 G
Zhou2022 GE
ABCC8     1-0944-003chr11:
17415843-17415843
GAexonicDe novosynonymous SNVNM_000352
NM_001287174
c.C4515T
c.C4518T
p.D1505D
p.D1506D
-4.138E-5Trost2022 G
Zhou2022 GE
ABCC8     3-0197-000chr11:
17464397-17464397
GAexonicDe novosynonymous SNVNM_000352
NM_001287174
c.C1500T
c.C1500T
p.N500N
p.N500N
-2.48E-5Trost2022 G
Zhou2022 GE
ABCC8     2-1458-003chr11:
17428295-17428295
GAexonicDe novononsynonymous SNVNM_000352
NM_001287174
c.C3203T
c.C3206T
p.T1068M
p.T1069M
15.543.0E-4Trost2022 G
Zhou2022 GE
ABCC8     11379-1chr11:
17448463-17448463
CGintronicDe novo--Fu2022 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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