Variant Results

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Results for "SLC25A29"

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
SLC25A29	151916	chr14: 100765146-100765146	C	T	intronic		De novo					-	8.24E-6	Satterstrom2020 E Trost2022 G
SLC25A29	12851.p1	chr14: 100758871-100758871	C	T	exonic		De novo	nonsynonymous SNV	NM_152333 NM_001039355 NM_001291813 NM_001291814	c.G463A c.G661A c.G463A c.G463A	p.G155R p.G221R p.G155R p.G155R	17.84	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Zhou2022 GE
SLC25A29	mAGRE2516	chr14: 100758890-100758892	CTT	C	exonic		Maternal	frameshift deletion	NM_152333 NM_001039355 NM_001291813 NM_001291814	c.442_443del c.640_641del c.442_443del c.442_443del	p.K148fs p.K214fs p.K148fs p.K148fs	-	-	Cirnigliaro2023 G
SLC25A29	2-0299-005	chr14: 100760147-100760147	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SLC25A29	10-0010-003	chr14: 100765863-100765863	C	G	intronic		De novo					-	-	Trost2022 G
SLC25A29	iHART2516	chr14: 100758890-100758892	CTT	C	exonic		Maternal	frameshift deletion	NM_152333 NM_001039355 NM_001291813 NM_001291814	c.442_443del c.640_641del c.442_443del c.442_443del	p.K148fs p.K214fs p.K148fs p.K148fs	-	-	Ruzzo2019 G
SLC25A29	SSC06297	chr14: 100758871-100758871	C	T	exonic		De novo	nonsynonymous SNV	NM_152333 NM_001039355 NM_001291813 NM_001291814	c.G463A c.G661A c.G463A c.G463A	p.G155R p.G221R p.G155R p.G155R	17.84	-	Fu2022 E Lim2017 E Trost2022 G

Source Variant Information

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Paper Information

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