Variant Results

or

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 GE

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 GE

MKX

1-0559-003

chr10:
28004043-28004043

C

CTTGTTCCCTTATTAGTGGGGAGAGCTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

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 notes	View
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