Variant Results

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Results for "TMEM8A"

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
TMEM8A	SP0046031	chr16: 426360-426360	C	T	exonic		De novo	nonsynonymous SNV	NM_021259	c.G1000A	p.D334N	8.816	2.544E-5	Fu2022 E Trost2022 G Zhou2022 GE
TMEM8A	iHART3291	chr16: 427426-427426	C	T	exonic		Maternal	stopgain	NM_021259	c.G459A	p.W153X	29.4	-	Ruzzo2019 G
TMEM8A	SP0253167	chr16: 427208-427208	C	T	intronic		De novo					-	-	Trost2022 G
TMEM8A	11940.p1	chr16: 426580-426580	C	T	exonic		De novo	nonsynonymous SNV	NM_021259	c.G868A	p.G290R	4.9	-	Iossifov2014 E Kosmicki2017 E Sanders2012 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
TMEM8A	Kim2020:B25	chr16: 427706-427706	C	G	exonic		De novo	nonsynonymous SNV	NM_021259	c.G264C	p.E88D	3.637	-	Kim2020 E
TMEM8A	AU4093301	chr16: 427426-427426	C	T	exonic		Maternal	stopgain	NM_021259	c.G459A	p.W153X	29.4	-	Cirnigliaro2023 G
TMEM8A	SSC03535	chr16: 426580-426580	C	T	exonic		De novo	nonsynonymous SNV	NM_021259	c.G868A	p.G290R	4.9	-	Fu2022 E Trost2022 G

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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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