Variant Results

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Results for "CCNDBP1"

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
CCNDBP1	iHART3041	chr15: 43477706-43477706	G	GC	exonic		Paternal	frameshift insertion	NM_012142	c.11dupC	p.A4fs	-	-	Ruzzo2019 G
CCNDBP1	3-0497-001	chr15: 43486408-43486408	A	AT	intronic		De novo					-	-	Trost2022 G
CCNDBP1	SP0011991	chr15: 43478462-43478462	T	C	intronic		De novo					-	-	Trost2022 G
CCNDBP1	3-0497-001	chr15: 43486405-43486405	G	TAAAA	intronic		De novo					-	-	Trost2022 G
CCNDBP1	mAGRE5512	chr15: 43483162-43483162	A	C	splicing		Maternal	splicing				18.83	-	Cirnigliaro2023 G
CCNDBP1	mAGRE3041	chr15: 43477706-43477706	G	GC	exonic		Paternal	frameshift insertion	NM_012142	c.11dupC	p.A4fs	-	-	Cirnigliaro2023 G
CCNDBP1	SP0000034	chr15: 43482262-43482262	T	G	exonic		De novo	nonsynonymous SNV	NM_012142	c.T341G	p.L114R	13.72	-	Fu2022 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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