Variant Results

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Results for "KRT1"

Variant Events: 8

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
KRT1	MSSNG00256-005	chr12: 53069177-53069177	C	T	exonic		De novo	nonsynonymous SNV	NM_006121	c.G1735A	p.G579S	0.571	1.318E-5	Trost2022 G
KRT1	SP0120586	chr12: 53072035-53072035	A	T	intronic		De novo					-	-	Fu2022 E
KRT1	7-0253-004	chr12: 53075683-53075683	C	T	intergenic		De novo					-	-	Yuen2017 G
KRT1	PN400104	chr12: 53070240-53070240	G	A	exonic		Unknown	nonsynonymous SNV	NM_006121	c.C1294T	p.R432C	21.0	6.0E-4	Leblond2019 E
KRT1	PN400240	chr12: 53070240-53070240	G	A	exonic		Unknown	nonsynonymous SNV	NM_006121	c.C1294T	p.R432C	21.0	6.0E-4	Leblond2019 E
KRT1	PN400213	chr12: 53070240-53070240	G	A	exonic		Unknown	nonsynonymous SNV	NM_006121	c.C1294T	p.R432C	21.0	6.0E-4	Leblond2019 E
KRT1	PN400248	chr12: 53070240-53070240	G	A	exonic		Unknown	nonsynonymous SNV	NM_006121	c.C1294T	p.R432C	21.0	6.0E-4	Leblond2019 E
KRT1	PN400127	chr12: 53070240-53070240	G	A	exonic		Unknown	nonsynonymous SNV	NM_006121	c.C1294T	p.R432C	21.0	6.0E-4	Leblond2019 E

Source Variant Information

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Paper Information

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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.
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