Variant Results

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Results for "ACP2"

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
ACP2	111310	chr11: 47264589-47264589	T	A	exonic			nonsynonymous SNV	NM_001302491 NM_001302490 NM_001302492 NM_001302489 NM_001610	c.A753T c.A846T c.A381T c.A858T c.A942T	p.E251D p.E282D p.E127D p.E286D p.E314D	23.0	-	Woodbury-Smith2022 E
ACP2	4904	chr11: 47270271-47270271	C	T	exonic		De novo	nonsynonymous SNV	NM_001302490 NM_001302491 NM_001610	c.G70A c.G70A c.G70A	p.V24M p.V24M p.V24M	21.4	-	Fu2022 E Trost2022 G
ACP2	13335.p1	chr11: 47270271-47270271	C	T	exonic		De novo	nonsynonymous SNV	NM_001302490 NM_001302491 NM_001610	c.G70A c.G70A c.G70A	p.V24M p.V24M p.V24M	21.4	-	Iossifov2014 E Ji2016 E Kosmicki2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
ACP2	mAGRE4052	chr11: 47266409-47266420	CGTGCGTTTGCT	C	exonic		Maternal	nonframeshift deletion	NM_001302491 NM_001302490 NM_001302492 NM_001302489 NM_001610	c.451_459del c.544_552del c.79_87del c.556_564del c.640_648del	p.151_153del p.182_184del p.27_29del p.186_188del p.214_216del	-	-	Cirnigliaro2023 G
ACP2	mAGRE4051	chr11: 47266409-47266420	CGTGCGTTTGCT	C	exonic		Maternal	nonframeshift deletion	NM_001302491 NM_001302490 NM_001302492 NM_001302489 NM_001610	c.451_459del c.544_552del c.79_87del c.556_564del c.640_648del	p.151_153del p.182_184del p.27_29del p.186_188del p.214_216del	-	-	Cirnigliaro2023 G
ACP2	08C77419	chr11: 47264345-47264345	C	T	exonic		De novo	nonsynonymous SNV	NM_001302491 NM_001302490 NM_001302492 NM_001302489 NM_001610	c.G878A c.G971A c.G506A c.G983A c.G1067A	p.R293H p.R324H p.R169H p.R328H p.R356H	8.61	3.315E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ACP2	1-0469-005	chr11: 47269072-47269072	G	A	intronic		De novo					-	1.123E-5	Trost2022 G Yuen2017 G

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Paper Information

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