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Results for "DLC1"

Variant Events: 32

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
DLC1     2-1093-009chr8:
12957871-12957871
TCexonicDe novononsynonymous SNVNM_001164271
NM_001316668
NM_006094
NM_182643
c.A442G
c.A766G
c.A664G
c.A1975G
p.T148A
p.T256A
p.T222A
p.T659A
3.359-Yuen2017 G
DLC1     AU1933302chr8:
12955458-12955458
CTintronicDe novo--Yuen2017 G
DLC1     A2chr8:
13384833-13384833
ACintergenicDe novo--Wu2018 G
DLC1     1-0469-005chr8:
13092950-13092950
AGintronicDe novo--Yuen2017 G
DLC1     AU1988302chr8:
13074194-13074194
CTintronicDe novo--Yuen2017 G
DLC1     A16chr8:
12952206-12952206
CTintronicDe novo--Wu2018 G
DLC1     1-0279-004chr8:
13176777-13176777
CTintronicDe novo--Yuen2017 G
DLC1     1-0436-003chr8:
13324534-13324538
AATATAATintronicDe novo--Yuen2017 G
DLC1     1-0554-003chr8:
13094359-13094359
AGintronicDe novo--Yuen2017 G
DLC1     AU3053301chr8:
13093698-13093698
GAintronicDe novo--Yuen2017 G
DLC1     1-0368-004chr8:
12947941-12947941
GAexonicDe novosynonymous SNVNM_001164271
NM_001316668
NM_006094
NM_182643
c.C2361T
c.C2685T
c.C2583T
c.C3894T
p.T787T
p.T895T
p.T861T
p.T1298T
-1.651E-5Yuen2017 G
DLC1     2-0299-003chr8:
13175181-13175181
TGintronicDe novo--Yuen2017 G
DLC1     1-0218-003chr8:
13305703-13305703
AGintronicDe novo--Yuen2017 G
DLC1     AU4089302chr8:
13079576-13079576
TGintronicDe novo--Yuen2017 G
DLC1     2-1629-003chr8:
13126083-13126083
GAintronicDe novo--Yuen2017 G
DLC1     SSC03444chr8:
13357486-13357486
TCexonicDe novononsynonymous SNVNM_024767
NM_182643
c.A95G
c.A95G
p.H32R
p.H32R
15.52-Lim2017 E
DLC1     11937.p1chr8:
13357486-13357486
TCexonicDe novononsynonymous SNVNM_024767
NM_182643
c.A95G
c.A95G
p.H32R
p.H32R
15.52-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
DLC1     2-1389-003chr8:
13281264-13281264
TCintronicDe novo--Yuen2016 G
Yuen2017 G
DLC1     PN400118chr8:
12950308-12950308
CAexonicUnknownnonsynonymous SNVNM_001164271
NM_001316668
NM_006094
NM_182643
c.G2020T
c.G2344T
c.G2242T
c.G3553T
p.A674S
p.A782S
p.A748S
p.A1185S
35.0-Leblond2019 E
DLC1     2-1440-003chr8:
13154429-13154429
AGintronicDe novo--Yuen2017 G
DLC1     AU3891304chr8:
13066150-13066150
AGintronicDe novo--Yuen2017 G
DLC1     2-1169-004chr8:
13245071-13245071
GTintronicDe novo--Yuen2017 G
DLC1     AU3768302chr8:
12958716-12958716
GAintronicDe novo--Yuen2017 G
DLC1     5-0015-003chr8:
13237685-13237685
AGintronicDe novo--Yuen2017 G
DLC1     2-1146-003chr8:
13407475-13407475
CAintergenicDe novo--Yuen2017 G
DLC1     2-0127-004chr8:
13318069-13318069
CTintronicDe novo--Yuen2017 G
DLC1     7-0095-003chr8:
13007835-13007835
GTintronicDe novo--Yuen2017 G
DLC1     AU3900301chr8:
13026174-13026174
CGintronicDe novo--Yuen2017 G
DLC1     PN400347chr8:
12958146-12958146
GAexonicUnknownnonsynonymous SNVNM_001164271
NM_001316668
NM_006094
NM_182643
c.C167T
c.C491T
c.C389T
c.C1700T
p.P56L
p.P164L
p.P130L
p.P567L
20.82.0E-4Leblond2019 E
DLC1     AU2140305chr8:
13364738-13364738
TGintronicDe novo--Yuen2017 G
DLC1     AU3727302chr8:
13218723-13218723
GAintronicDe novo--Yuen2017 G
DLC1     PN400213chr8:
12950308-12950308
CAexonicUnknownnonsynonymous SNVNM_001164271
NM_001316668
NM_006094
NM_182643
c.G2020T
c.G2344T
c.G2242T
c.G3553T
p.A674S
p.A782S
p.A748S
p.A1185S
35.0-Leblond2019 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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