Variant Results

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Results for "KRBA1"

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
KRBA1	11773.p1	chr7: 149420891-149420891	C	G	exonic		De novo	unknown				13.1	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
KRBA1	11818.p1	chr7: 149419954-149419954	G	A	exonic		De novo	unknown				15.17	3.338E-5	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
KRBA1	AU3636301	chr7: 149420409-149420409	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KRBA1	5898	chr7: 149420891-149420891	C	G	exonic		De novo	unknown				13.1	-	Fu2022 E Trost2022 G
KRBA1	mAGRE6003	chr7: 149426380-149426381	GC	G	exonic		Maternal	unknown				-	1.068E-5	Cirnigliaro2023 G
KRBA1	SSC07170	chr7: 149431023-149431023	G	A	exonic		De novo	unknown				12.5	3.676E-5	Lim2017 E
KRBA1	SSC05601	chr7: 149419954-149419954	G	A	exonic		De novo	unknown				15.17	3.338E-5	Trost2022 G
KRBA1	SP0012713	chr7: 149427562-149427562	C	G	exonic		De novo	unknown				17.32	-	Fu2022 E Zhou2022 GE

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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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