Variant Results

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Results for "ASH2L"

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
ASH2L	MSSNG00405-003	chr8: 37979713-37979713	G	C	intronic		De novo					-	-	Trost2022 G
ASH2L	1-1200-003	chr8: 37962183-37962183	C	T	upstream		De novo					-	-	Trost2022 G
ASH2L	SP0148352	chr8: 37963335-37963335	C	T	UTR5		De novo					-	-	Trost2022 G
ASH2L	AU128A	chr8: 37986409-37986409	T	C	exonic		De novo	synonymous SNV	NM_001282272 NM_001105214 NM_001261832 NM_004674	c.T1050C c.T1185C c.T1185C c.T1467C	p.Y350Y p.Y395Y p.Y395Y p.Y489Y	9.09	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ASH2L	Chen2017:93	chr8: 37993231-37993231	G	C	exonic		De novo	nonsynonymous SNV	NM_001282272 NM_001105214 NM_004674	c.G1249C c.G1384C c.G1666C	p.D417H p.D462H p.D556H	22.8	-	Chen2017 E
ASH2L	SP0011919	chr8: 37963467-37963467	C	T	UTR5		De novo					-	-	Fu2022 E Trost2022 G
ASH2L	200675641_1082034789	chr8: 37993231-37993231	G	C	exonic		De novo	nonsynonymous SNV	NM_001282272 NM_001105214 NM_004674	c.G1249C c.G1384C c.G1666C	p.D417H p.D462H p.D556H	22.8	-	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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