Variant Results

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Results for "KRT76"

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
KRT76	Costa2023:P5-1	chr12: 53165919-53165919	G	A	exonic		De novo	stopgain	NM_015848	c.C1096T	p.Q366X	22.0	-	Costa2023 E
KRT76	12093.p1	chr12: 53167397-53167397	G	T	exonic		De novo	nonsynonymous SNV	NM_015848	c.C845A	p.A282D	10.89	-	Ji2016 E Krumm2015 E
KRT76	SP0205372	chr12: 53170457-53170457	C	T	intronic		De novo					-	2.472E-5	Trost2022 G
KRT76	SP0059228	chr12: 53165609-53165609	G	A	intronic		De novo					-	6.0E-4	Trost2022 G
KRT76	SP0198497	chr12: 53166023-53166023	C	A	exonic		De novo	nonsynonymous SNV	NM_015848	c.G992T	p.S331I	13.0	-	Trost2022 G
KRT76	2-1506-003	chr12: 53165942-53165942	C	T	exonic		De novo	nonsynonymous SNV	NM_015848	c.G1073A	p.R358H	12.82	4.0E-4	Trost2022 G Yuen2017 G Zhou2022 GE
KRT76	SP0015237	chr12: 53165787-53165787	G	A	intronic		De novo					-	-	Fu2022 E Trost2022 G Zhou2022 GE

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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