Variant Results

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Results for "SLC25A39"

Variant Events: 5

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
SLC25A39	12939.p1	Complex Event; expand row to view variants					De novo	frameshift deletion	NM_001143780 NM_016016 NM_001143780 NM_016016	c.335_336del c.311_312del c.334_335del c.310_311del	p.V112fs p.V104fs p.V112fs p.V104fs	-	-	Dong2014 E Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Willsey2013 E Zhou2022 GE
SLC25A39	SSC05709	chr17: 42399123-42399125	TCA	T	exonic		De novo	frameshift deletion	NM_001143780 NM_016016	c.335_336del c.311_312del	p.V112fs p.V104fs	-	-	Fu2022 E Trost2022 G
SLC25A39	Li2017:20258	chr17: 42398444-42398444	G	A	exonic		Unknown	stopgain	NM_001143780 NM_016016	c.C673T c.C649T	p.R225X p.R217X	36.0	2.915E-5	Li2017 T
SLC25A39	1360011	chr17: 42400806-42400807	CA	C	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
SLC25A39	SP0093067	chr17: 42397996-42397996	T	G	exonic		De novo	synonymous SNV	NM_001143780 NM_016016	c.A795C c.A771C	p.S265S p.S257S	-	-	Fu2022 E

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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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