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Results for "MERTK"

Variant Events: 38

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     AU050910chr2:
112717542-112717542		AGintronicDe novo--Yuen2017 G
MERTK     2-1511-003chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     2-1591-003chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     1-0450-003chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     2-0286-003chr2:
112675586-112675586		TGintronicDe novo--Trost2022 G
Yuen2017 G
MERTK     1-0554-003chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     AU4186302chr2:
112740485-112740485		GAexonicDe novononsynonymous SNVNM_006343c.G1211Ap.R404K8.369-Trost2022 G
Yuen2017 G
Zhou2022 GE
MERTK     SP0181424chr2:
112670654-112670654		AGintronicDe novo--Trost2022 G
MERTK     MSSNG00247-003chr2:
112696459-112696459		GAintronicDe novo--Trost2022 G
MERTK     1-0126-004chr2:
112706563-112706563		GAintronicDe novo--Trost2022 G
Yuen2017 G
MERTK     Lim2017:10605chr2:
112779003-112779003		CTexonicDe novostopgainNM_006343c.C2194Tp.R732X43.0-Lim2017 E
MERTK     REACH000001chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     SJD_3.3chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     iHART1271chr2:
112786012-112786014		CTTCexonicPaternalframeshift deletionNM_006343c.2572_2573delp.L858fs--Ruzzo2019 G
MERTK     AU076705chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     iHART1383chr2:
112777100-112777100		GTsplicingPaternalsplicing24.98.237E-6Ruzzo2019 G
MERTK     MSSNG00252-003chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     2-1288-003chr2:
112800233-112800233		GAintergenicDe novo--Yuen2017 G
MERTK     7-0128-003chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     SP0026235chr2:
112751935-112751935		ACexonicDe novosynonymous SNVNM_006343c.A1404Cp.G468G--Fu2022 E
Trost2022 G
Zhou2022 GE
MERTK     7-0250-003Achr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     4-0086-003chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     5-0109-003chr2:
112702114-112702114		CTintronicDe novo--Trost2022 G
MERTK     1-0593-003chr2:
112662350-112662350		ACintronicDe novo--Trost2022 G
Yuen2017 G
MERTK     iHART1268chr2:
112786012-112786014		CTTCexonicPaternalframeshift deletionNM_006343c.2572_2573delp.L858fs--Ruzzo2019 G
MERTK     G01-GEA-193-HIchr2:
112686801-112686801		GAexonicDe novononsynonymous SNVNM_006343c.G166Ap.A56T0.922-Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MERTK     14064.p1chr2:
112725700-112725700		TGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
MERTK     1-0459-003chr2:
112715117-112715117		AGintronicDe novo--Yuen2017 G
MERTK     10605chr2:
112779003-112779003		CTexonicDe novostopgainNM_006343c.C2194Tp.R732X43.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MERTK     10C106627chr2:
112732928-112732928		AGexonicDe novosynonymous SNVNM_006343c.A1023Gp.P341P--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MERTK     mAGRE1271chr2:
112786012-112786014		CTTCexonicPaternalframeshift deletionNM_006343c.2572_2573delp.L858fs--Cirnigliaro2023 G
MERTK     mAGRE1268chr2:
112786012-112786014		CTTCexonicPaternalframeshift deletionNM_006343c.2572_2573delp.L858fs--Cirnigliaro2023 G
MERTK     mAGRE5669chr2:
112779003-112779003		CTexonicMaternalstopgainNM_006343c.C2194Tp.R732X43.0-Cirnigliaro2023 G
MERTK     mAGRE5668chr2:
112779003-112779003		CTexonicMaternalstopgainNM_006343c.C2194Tp.R732X43.0-Cirnigliaro2023 G
MERTK     AU4033303chr2:
112805451-112805451		GTintergenicDe novo--Yuen2017 G
MERTK     mAGRE1383chr2:
112777100-112777100		GTsplicingPaternalsplicing24.98.237E-6Cirnigliaro2023 G
MERTK     2-1264-003chr2:
112711795-112711795		CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MERTK     1-0874-003chr2:
112661403-112661403		TCintronicDe novo--Trost2022 G
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
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