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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     MSSNG00358-003chr10:
27981129-27981129
AGintronicDe novo--Trost2022 G
MKX     MSSNG00100-004chr10:
27987473-27987473
TCintronicDe novo--Trost2022 G
MKX     2-1526-003chr10:
28018185-28018185
TCintronicDe novo--Trost2022 G
Yuen2017 G
MKX     AU4211304chr10:
27972494-27972494
GAintronicDe novo--Trost2022 G
Yuen2017 G
MKX     NP020chr10:
28030357-28030357
GAexonicDe novononsynonymous SNVNM_001242702
NM_173576
c.C265T
c.C265T
p.L89F
p.L89F
32.0-Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MKX     7-0484-003chr10:
28021174-28021174
TCintronicDe novo--Trost2022 G
MKX     JASD_Fam0146chr10:
28030357-28030357
GAexonicDe novononsynonymous SNVNM_001242702
NM_173576
c.C265T
c.C265T
p.L89F
p.L89F
32.0-Takata2018 E
MKX     1-0714-003chr10:
28027563-28027563
AGintronicDe novo--Trost2022 G
MKX     1-0903-003chr10:
28004039-28004039
GGGGAintronicDe novo--Trost2022 G
MKX     1-0903-003chr10:
28004043-28004043
CCTTGTTCCCTTATTAGTGGGGAGAGCTGintronicDe novo--Trost2022 G
MKX     2-1376-003chr10:
27968189-27968190
TATintronicDe novo--Yuen2016 G
MKX     151102chr10:
28030345-28030345
GCexonicDe novononsynonymous SNVNM_001242702
NM_173576
c.C277G
c.C277G
p.R93G
p.R93G
22.5-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MKX     1-0559-003chr10:
28004043-28004043
CCTTGTTCCCTTATTAGTGGGGAGAGCTGintronicDe 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 notesView
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