Variant Results

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Results for "TMEM82"

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
TMEM82	SP0050735	chr1: 16073441-16073445	GCTGA	G	exonic		De novo	frameshift deletion	NM_001013641	c.838_841del	p.L280fs	-	-	Fu2022 E Trost2022 G Zhou2022 GE
TMEM82	08C76039	chr1: 16069388-16069388	C	T	exonic		De novo	synonymous SNV	NM_001013641	c.C147T	p.F49F	-	6.0E-4	Satterstrom2020 E Trost2022 G Zhou2022 GE
TMEM82	13509.p1	chr1: 16070724-16070724	A	G	exonic			nonsynonymous SNV	NM_001013641	c.A406G	p.T136A	13.97	2.356E-5	Zhou2022 GE
TMEM82	1-1212-003	chr1: 16072500-16072500	G	A	intronic		De novo					-	-	Trost2022 G
TMEM82	60-1015	chr1: 16074127-16074127	A	G	exonic		Inherited	stoploss	NM_001013641	c.A1032G	p.X344W	10.7	8.303E-6	Patowary2019 E

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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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