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Results for "MERTK"

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
MERTK     G01-GEA-193-HIchr2:
112686801-112686801
GAexonicDe novononsynonymous SNVNM_006343c.G166Ap.A56T0.922-Lim2017 E
Satterstrom2020 E
MERTK     14064.p1chr2:
112725700-112725700
TGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
MERTK     1-0459-003chr2:
112715117-112715117
AGintronicDe novo--Yuen2017 G
MERTK     AU050910chr2:
112717542-112717542
AGintronicDe novo--Yuen2017 G
MERTK     2-0286-003chr2:
112675586-112675586
TGintronicDe novo--Yuen2017 G
MERTK     AU4186302chr2:
112740485-112740485
GAexonicDe novononsynonymous SNVNM_006343c.G1211Ap.R404K8.369-Yuen2017 G
MERTK     1-0126-004chr2:
112706563-112706563
GAintronicDe novo--Yuen2017 G
MERTK     10605chr2:
112779003-112779003
CTexonicDe novostopgainNM_006343c.C2194Tp.R732X43.0-Satterstrom2020 E
MERTK     10C106627chr2:
112732928-112732928
AGexonicDe novosynonymous SNVNM_006343c.A1023Gp.P341P--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MERTK     Lim2017:10605chr2:
112779003-112779003
CTexonicDe novostopgainNM_006343c.C2194Tp.R732X43.0-Lim2017 E
MERTK     iHART1271chr2:
112786012-112786014
CTTCexonicPaternalframeshift deletionNM_006343c.2572_2573delp.L858fs--Ruzzo2019 G
MERTK     iHART1383chr2:
112777100-112777100
GTsplicingPaternalsplicing24.98.237E-6Ruzzo2019 G
MERTK     2-1288-003chr2:
112800233-112800233
GAintergenicDe novo--Yuen2017 G
MERTK     AU4033303chr2:
112805451-112805451
GTintergenicDe novo--Yuen2017 G
MERTK     1-0593-003chr2:
112662350-112662350
ACintronicDe novo--Yuen2017 G
MERTK     2-1264-003chr2:
112711795-112711795
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MERTK     1-0874-003chr2:
112661403-112661403
TCintronicDe novo--Yuen2017 G
MERTK     iHART1268chr2:
112786012-112786014
CTTCexonicPaternalframeshift deletionNM_006343c.2572_2573delp.L858fs--Ruzzo2019 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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