Variant Results

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Results for "SETDB1"

Variant Events: 10

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
SETDB1	11440.p1	chr1: 150902614-150902614	T	C	intronic		De novo					-	-	Krumm2015 E Satterstrom2020 E
SETDB1	AU134A	chr1: 150933526-150933526	T	C	exonic		De novo	synonymous SNV	NM_001145415 NM_012432	c.T2988C c.T2988C	p.A996A p.A996A	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SETDB1	1-0075-003	chr1: 150919744-150919744	C	G	intronic		De novo					-	-	Yuen2017 G
SETDB1	1-1223-003	chr1: 150922435-150922435	C	T	intronic		De novo					-	-	Trost2022 G
SETDB1	10-1104-003	chr1: 150907236-150907237	TT	AAAA	intronic		De novo					-	-	Trost2022 G
SETDB1	SP0080146	chr1: 150935016-150935016	A	C	intronic		De novo					-	-	Fu2022 E
SETDB1	SSC02495	chr1: 150902614-150902614	T	C	intronic		De novo					-	-	Trost2022 G
SETDB1	2-1355-003	chr1: 150907015-150907015	T	G	intronic		De novo					-	-	Yuen2017 G
SETDB1	EGAN00001100990	chr1: 150923094-150923094	A	C	exonic		De novo	nonsynonymous SNV	NM_001145415 NM_012432	c.A1741C c.A1741C	p.T581P p.T581P	19.8	2.0E-4	Fu2022 E
SETDB1	ASC_CA_86_A	chr1: 150921942-150921942	A	ACAGTGACCAC	exonic		De novo	stopgain	NM_001145415 NM_012432	c.1521_1522insCAGTGACCAC c.1521_1522insCAGTGACCAC	p.T507_S508delinsTQX p.T507_S508delinsTQX	-	-	Fu2022 E

Source Variant Information

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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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