Variant Results

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Results for "DGAT1"

Variant Events: 9

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
DGAT1	1006001	chr8: 145541224-145541224	G	A	exonic		De novo	nonsynonymous SNV	NM_012079	c.C964T	p.R322C	17.53	1.649E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
DGAT1	NDAR_INVVT483LX0_wes1	chr8: 145540331-145540331	G	C	exonic		De novo	nonsynonymous SNV	NM_012079	c.C1353G	p.N451K	17.04	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
DGAT1	iHART1627	chr8: 145541756-145541756	A	G	splicing		Maternal	splicing				13.49	1.0E-4	Ruzzo2019 G
DGAT1	SP0067683	chr8: 145550083-145550083	G	A	intronic		De novo					-	1.0E-4	Trost2022 G
DGAT1	SSC05893	chr8: 145545015-145545015	C	T	exonic		De novo	nonsynonymous SNV	NM_012079	c.G257A	p.R86H	31.0	-	Fu2022 E Lim2017 E Trost2022 G
DGAT1	AU2192301	chr8: 145547627-145547627	G	A	intronic		De novo					-	-	Trost2022 G
DGAT1	mAGRE1627	chr8: 145541756-145541756	A	G	splicing		Maternal	splicing				13.49	1.0E-4	Cirnigliaro2023 G
DGAT1	12901.p1	chr8: 145545015-145545015	C	T	exonic		De novo	nonsynonymous SNV	NM_012079	c.G257A	p.R86H	31.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
DGAT1	SP0024517	chr8: 145545064-145545064	G	A	exonic			nonsynonymous SNV	NM_012079	c.C208T	p.R70C	18.34	8.28E-6	Zhou2022 GE

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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