Variant Results

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Results for "MKX"

Variant Events: 7

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	2-1526-003	chr10: 28018185-28018185	T	C	intronic		De novo					-	-	Yuen2017 G
MKX	AU4211304	chr10: 27972494-27972494	G	A	intronic		De novo					-	-	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
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	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
MKX	1-0559-003	chr10: 28004043-28004043	C	CTTGTTCCCTTATTAGTGGGGAGAGCTG	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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.
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