Variant Results

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Results for "TMEM175"

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
TMEM175	11808.p1	chr4: 946250-946250	G	A	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E
TMEM175	1-0496-003	chr4: 935296-935296	G	A	intronic		De novo					-	-	Yuen2017 G
TMEM175	048-05-102699	chr4: 941861-941861	G	A	intronic		De novo					-	1.653E-5	Satterstrom2020 E
TMEM175	AU2137304	chr4: 948730-948730	C	T	intronic		De novo					-	-	Yuen2017 G
TMEM175	SP0022437	chr4: 946213-946213	G	T	exonic		De novo	nonsynonymous SNV	NM_001297424 NM_001297425 NM_001297428 NM_001297423 NM_001297427 NM_032326 NM_001297426	c.G191T c.G191T c.G89T c.G191T c.G89T c.G437T c.G89T	p.C64F p.C64F p.C30F p.C64F p.C30F p.C146F p.C30F	15.79	8.256E-6	Feliciano2019 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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