Variant Results

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Results for "TM4SF20"

Variant Events: 9

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
TM4SF20	mAGRE4987	chr2: 228243833-228243833	C	T	exonic		Maternal	stopgain	NM_024795	c.G152A	p.W51X	25.8	3.3E-5	Cirnigliaro2023 G
TM4SF20	mAGRE4986	chr2: 228243833-228243833	C	T	exonic		Maternal	stopgain	NM_024795	c.G152A	p.W51X	25.8	3.3E-5	Cirnigliaro2023 G
TM4SF20	14015.p1	chr2: 228332589-228332589	G	T	intergenic		De novo					-	-	Turner2016 G
TM4SF20	AU4122301	chr2: 228231481-228231481	G	T	intronic		De novo					-	-	Trost2022 G
TM4SF20	REACH000233	chr2: 228238672-228238672	G	A	intronic		De novo					-	-	Trost2022 G
TM4SF20	AU4234302	chr2: 228240484-228240484	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
TM4SF20	AU075703	chr2: 228290566-228290566	C	T	intergenic		De novo					-	-	Yuen2017 G
TM4SF20	Krgovic2022:040110	chr2: 228235698-228235698	T	A	splicing		Unknown	splicing				11.93	2.471E-5	Krgovic2022 E
TM4SF20	SP0103498	chr2: 228228598-228228598	C	T	exonic		De novo	nonsynonymous SNV	NM_024795	c.G532A	p.D178N	0.656	-	Fu2022 E Trost2022 G Zhou2022 GE

Source Variant Information

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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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