Variant Results

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Results for "POMT2"

Variant Events: 8

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
POMT2	SP0032551	chr14: 77751952-77751952	A	G	exonic		De novo	synonymous SNV	NM_013382	c.T1356C	p.D452D	-	-	Fu2022 E Trost2022 G Zhou2022 GE
POMT2	SP0057792	chr14: 77762496-77762496	G	C	intronic		De novo					-	-	Fu2022 E Trost2022 G
POMT2	mAGRE2688	chr14: 77751891-77751891	G	A	exonic		Paternal	stopgain	NM_013382	c.C1417T	p.R473X	40.0	2.471E-5	Cirnigliaro2023 G
POMT2	11110.p1	chr14: 77742121-77742121	G	A	UTR3		De novo					-	-	Wilfert2021 G
POMT2	1-0345-003	chr14: 77755374-77755374	C	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
POMT2	iHART2688	chr14: 77751891-77751891	G	A	exonic		Paternal	stopgain	NM_013382	c.C1417T	p.R473X	40.0	2.471E-5	Ruzzo2019 G
POMT2	SP0041340	chr14: 77746682-77746682	T	A	intronic		De novo					-	-	Trost2022 G
POMT2	7-0369-003	chr14: 77745347-77745347	G	A	intronic		De novo					-	3.0E-4	Trost2022 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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