Variant Results

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Results for "ANP32A"

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
ANP32A	3-0019-000	chr15: 69072471-69072475	CCTTT	C	exonic		De novo	frameshift deletion	NM_006305	c.695_698del	p.E232fs	-	-	Trost2022 G Zhou2022 GE
ANP32A	219-2302-0001	chr15: 69072746-69072747	TA	TTA	intronic		Inherited					-	8.245E-6	Stessman2017 T
ANP32A	AU2109301	chr15: 69083775-69083775	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ANP32A	AU1196301	chr15: 69075303-69075303	C	G	exonic		Unknown	nonsynonymous SNV	NM_006305	c.G616C	p.E206Q	15.29	4.487E-5	Stessman2017 T
ANP32A	13987.p1	chr15: 69080207-69080223	CTTCGAGTTTGCCTTCA	C	exonic		De novo	frameshift deletion	NM_006305	c.90_105del	p.N30fs	-	-	Ji2016 E Krumm2015 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
ANP32A	1-1223-003	chr15: 69107368-69107368	G	A	intronic		De novo					-	-	Trost2022 G
ANP32A	6-0476-003	chr15: 69104878-69104878	C	G	intronic		De novo					-	-	Trost2022 G

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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