or
or
Exact

Results for "MARK1"

Variant Events: 10

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
MARK1     10C116616chr1:
220835211-220835211
GAexonicDe novosynonymous SNVNM_001286128
NM_001286126
NM_001286124
NM_018650
c.G1980A
c.G2046A
c.G2094A
c.G2091A
p.P660P
p.P682P
p.P698P
p.P697P
-1.678E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MARK1     1-0265-003chr1:
220849862-220849862
GAintergenicDe novo--Yuen2017 G
MARK1     552-06-107496chr1:
220835285-220835287
GAAGexonicDe novoframeshift deletionNM_001286128
NM_001286126
NM_001286124
NM_018650
c.2055_2056del
c.2121_2122del
c.2169_2170del
c.2166_2167del
p.R685fs
p.R707fs
p.R723fs
p.R722fs
--Satterstrom2020 E
MARK1     1-0296-003chr1:
220749347-220749347
CCTCCTTCCTintronicDe novo--Yuen2017 G
MARK1     1-0265-004chr1:
220849862-220849862
GAintergenicDe novo--Yuen2017 G
MARK1     1-0043-003chr1:
220808660-220808660
TCintronicDe novo--Yuen2017 G
MARK1     AU3790301chr1:
220817042-220817042
ATintronicDe novo--Yuen2017 G
MARK1     2-1365-003chr1:
220839894-220839894
GTintergenicDe novo--Yuen2017 G
MARK1     AU3997302chr1:
220784448-220784448
GAintronicDe novo--Yuen2017 G
MARK1     3-0215-000chr1:
220835359-220835359
GAexonicDe novononsynonymous SNVNM_001286128
NM_001286126
NM_001286124
NM_018650
c.G2128A
c.G2194A
c.G2242A
c.G2239A
p.A710T
p.A732T
p.A748T
p.A747T
20.42.0E-4Tammimies2015 E
Source Variant Information

, -

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
More