Variant Results

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Results for "POMT1"

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
POMT1	Li2017:23717	chr9: 134398429-134398429	C	T	exonic		Unknown	nonsynonymous SNV	NM_001136114 NM_001077366 NM_001077365 NM_001136113 NM_007171	c.C1763T c.C1952T c.C2114T c.C2114T c.C2180T	p.S588L p.S651L p.S705L p.S705L p.S727L	15.25	2.655E-5	Li2017 T
POMT1	Li2017:30	chr9: 134386855-134386855	G	A	splicing		Unknown	splicing				19.42	-	Li2017 T
POMT1	Li2017:16286	chr9: 134381575-134381575	C	T	exonic		Unknown	nonsynonymous SNV	NM_001077366 NM_001077365 NM_001136113 NM_007171	c.C35T c.C197T c.C197T c.C197T	p.P12L p.P66L p.P66L p.P66L	29.2	3.295E-5	Li2017 T
POMT1	Li2017:20402	chr9: 134396829-134396829	C	T	exonic		De novo	nonsynonymous SNV	NM_001136114 NM_001077366 NM_001077365 NM_001136113 NM_007171	c.C1444T c.C1633T c.C1795T c.C1795T c.C1861T	p.R482W p.R545W p.R599W p.R599W p.R621W	17.51	8.243E-6	Li2017 T
POMT1	1-0323-003	chr9: 134378226-134378226	G	A	upstream		De novo					-	-	Yuen2017 G
POMT1	08C74645	chr9: 134395439-134395439	A	C	intronic		De novo					-	-	Satterstrom2020 E
POMT1	Li2017:19664	chr9: 134386814-134386814	C	T	exonic		Unknown	nonsynonymous SNV	NM_001136114 NM_001077366 NM_001077365 NM_001136113 NM_007171	c.C595T c.C784T c.C946T c.C946T c.C1012T	p.P199S p.P262S p.P316S p.P316S p.P338S	22.1	-	Li2017 T
POMT1	13535.p1	chr9: 134381774-134381774	T	C	intronic		De novo					-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
POMT1	1-0447-003	chr9: 134380248-134380248	C	T	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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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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