Variant Results

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Results for "TMPRSS11D"

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
TMPRSS11D	iHART2553	chr4: 68719785-68719785	C	T	splicing		Paternal	splicing				18.13	-	Ruzzo2019 G
TMPRSS11D	SSC07467	chr4: 68693131-68693131	G	T	exonic		De novo	nonsynonymous SNV	NM_004262	c.C800A	p.A267E	1.85	-	Fu2022 E Lim2017 E
TMPRSS11D	iHART2554	chr4: 68719785-68719785	C	T	splicing		Paternal	splicing				18.13	-	Ruzzo2019 G
TMPRSS11D	iHART1829	chr4: 68691516-68691516	A	T	exonic		Maternal	stopgain	NM_004262	c.T1029A	p.Y343X	20.9	2.0E-4	Ruzzo2019 G
TMPRSS11D	13316.p1	chr4: 68693131-68693131	G	T	exonic		De novo	nonsynonymous SNV	NM_004262	c.C800A	p.A267E	1.85	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
TMPRSS11D	AU031204	chr4: 68744925-68744925	C	T	intronic		De novo					-	-	Yuen2017 G
TMPRSS11D	AU3724302	chr4: 68695512-68695512	T	C	intronic		De novo					-	-	Yuen2017 G

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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