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Results for "MKX"
Variant Events: 13
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
MKX
MSSNG00358-003
chr10:
27981129-27981129
A
G
intronic
De novo
-
-
Trost2022
G
MKX
MSSNG00100-004
chr10:
27987473-27987473
T
C
intronic
De novo
-
-
Trost2022
G
MKX
2-1526-003
chr10:
28018185-28018185
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
MKX
AU4211304
chr10:
27972494-27972494
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
MKX
NP020
chr10:
28030357-28030357
G
A
exonic
De novo
nonsynonymous SNV
NM_001242702
NM_173576
c.C265T
c.C265T
p.L89F
p.L89F
32.0
-
Fu2022
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
MKX
7-0484-003
chr10:
28021174-28021174
T
C
intronic
De novo
-
-
Trost2022
G
MKX
JASD_Fam0146
chr10:
28030357-28030357
G
A
exonic
De novo
nonsynonymous SNV
NM_001242702
NM_173576
c.C265T
c.C265T
p.L89F
p.L89F
32.0
-
Takata2018
E
MKX
1-0714-003
chr10:
28027563-28027563
A
G
intronic
De novo
-
-
Trost2022
G
MKX
1-0903-003
chr10:
28004039-28004039
G
GGGA
intronic
De novo
-
-
Trost2022
G
MKX
1-0903-003
chr10:
28004043-28004043
C
CTTGTTCCCTTATTAGTGGGGAGAGCTG
intronic
De novo
-
-
Trost2022
G
MKX
2-1376-003
chr10:
27968189-27968190
TA
T
intronic
De novo
-
-
Yuen2016
G
MKX
151102
chr10:
28030345-28030345
G
C
exonic
De novo
nonsynonymous SNV
NM_001242702
NM_173576
c.C277G
c.C277G
p.R93G
p.R93G
22.5
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
MKX
1-0559-003
chr10:
28004043-28004043
C
CTTGTTCCCTTATTAGTGGGGAGAGCTG
intronic
De 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
Curation notes
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