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Results for "MARK2"

Variant Events: 21

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
MARK2     1-0098-003Achr11:
63627968-63627968
GTintronicDe novo--Trost2022 G
MARK2     5-5186-003chr11:
63650450-63650450
CTintronicDe novo--Trost2022 G
MARK2     13739.p1chr11:
63665704-63665704
CTexonicDe novosynonymous SNVNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.C289T
c.C289T
c.C289T
c.C289T
c.C190T
p.L97L
p.L97L
p.L97L
p.L97L
p.L64L
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
MARK2     MT_82.3chr11:
63667512-63667513
TGTexonicDe novoframeshift deletionNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.699delG
c.699delG
c.699delG
c.699delG
c.600delG
p.V233fs
p.V233fs
p.V233fs
p.V233fs
p.V200fs
--Antaki2022 GE
Trost2022 G
Zhou2022 GE
MARK2     AU0002-0201chr11:
63675707-63675709
ACTAintronicDe novo--Satterstrom2020 E
Trost2022 G
MARK2     SP0019104chr11:
63676371-63676371
GAexonicnonsynonymous SNVNM_001163297
NM_001163296
NM_004954
NM_017490
NM_001039469
c.G1792A
c.G1822A
c.G1837A
c.G1900A
c.G2029A
p.G598S
p.G608S
p.G613S
p.G634S
p.G677S
4.503-Zhou2022 GE
MARK2     AU4423303chr11:
63619638-63619638
GAintronicDe novo--Trost2022 G
Yuen2017 G
MARK2     SSC08664chr11:
63665704-63665704
CTexonicDe novosynonymous SNVNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.C289T
c.C289T
c.C289T
c.C289T
c.C190T
p.L97L
p.L97L
p.L97L
p.L97L
p.L64L
--Fu2022 E
Trost2022 G
MARK2     7-0224-003chr11:
63678130-63678130
TTAUTR3De novo--Trost2022 G
Trost2022 G
MARK2     1-1015-003Achr11:
63668440-63668441
TCTexonicDe novoframeshift deletionNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.1001delC
c.1001delC
c.1001delC
c.1001delC
c.902delC
p.S334fs
p.S334fs
p.S334fs
p.S334fs
p.S301fs
--Trost2022 G
Zhou2022 GE
MARK2     MSSNG00351-004chr11:
63653445-63653445
ATintronicDe novo--Trost2022 G
MARK2     SP0224475chr11:
63666216-63666216
CTintronicDe novo--Trost2022 G
MARK2     DEASD_0106_001chr11:
63666549-63666549
ACexonicDe novononsynonymous SNVNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.A500C
c.A500C
c.A500C
c.A500C
c.A401C
p.H167P
p.H167P
p.H167P
p.H167P
p.H134P
27.8-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MARK2     AU3692301chr11:
63618204-63618204
TCintronicDe novo--Trost2022 G
Yuen2017 G
MARK2     1-0595-005chr11:
63668746-63668746
GAintronicDe novo--Trost2022 G
Yuen2017 G
MARK2     SP0288100chr11:
63666288-63666288
CTexonicstopgainNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.C457T
c.C457T
c.C457T
c.C457T
c.C358T
p.R153X
p.R153X
p.R153X
p.R153X
p.R120X
39.0-Zhou2022 GE
MARK2     SP0100680chr11:
63662787-63662787
CTexonicDe novostopgainNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.C211T
c.C211T
c.C211T
c.C211T
c.C112T
p.R71X
p.R71X
p.R71X
p.R71X
p.R38X
31.0-Fu2022 E
Trost2022 G
Zhou2022 GE
MARK2     SP0201186chr11:
63666233-63666233
ACsplicingDe novosplicing18.17-Trost2022 G
Zhou2022 GE
MARK2     SP0006295chr11:
63666145-63666145
GAexonicDe novononsynonymous SNVNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.G403A
c.G403A
c.G403A
c.G403A
c.G304A
p.G135R
p.G135R
p.G135R
p.G135R
p.G102R
25.3-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
MARK2     SP0224479chr11:
63670262-63670262
GCintronic--Zhou2022 GE
MARK2     SP0243341chr11:
63667505-63667505
GAexonicDe novononsynonymous SNVNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490
c.G691A
c.G691A
c.G691A
c.G691A
c.G592A
p.V231M
p.V231M
p.V231M
p.V231M
p.V198M
25.3-Trost2022 G
Zhou2022 GE
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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