Variant Results

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Results for "POMGNT1"

Variant Events: 6

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
POMGNT1	Li2017:16232	chr1: 46655223-46655224	TC	T	exonic		Unknown	frameshift deletion	NM_001290129 NM_001290130 NM_001243766 NM_017739	c.1735delG c.1372delG c.1801delG c.1801delG	p.D579fs p.D458fs p.D601fs p.D601fs	-	-	Li2017 T
POMGNT1	Li2017:19711	chr1: 46655238-46655238	C	A	exonic		Unknown	nonsynonymous SNV	NM_001290129 NM_001290130 NM_001243766 NM_017739	c.G1721T c.G1358T c.G1787T c.G1787T	p.C574F p.C453F p.C596F p.C596F	23.5	-	Li2017 T
POMGNT1	AU-13300	chr1: 46658987-46658987	C	T	exonic		Inherited	nonsynonymous SNV	NM_001290129 NM_001290130 NM_001243766 NM_017739	c.G1034A c.G671A c.G1100A c.G1100A	p.R345H p.R224H p.R367H p.R367H	28.8	8.675E-6	Yu2013 E
POMGNT1	iHART1146	chr1: 46660525-46660525	G	A	exonic		Paternal	stopgain	NM_001290129 NM_001290130 NM_001243766 NM_017739	c.C577T c.C214T c.C643T c.C643T	p.R193X p.R72X p.R215X p.R215X	43.0	2.488E-5	Ruzzo2019 G
POMGNT1	Li2017:15021	chr1: 46661488-46661488	C	CA	exonic		Unknown	frameshift insertion	NM_001290129 NM_001290130 NM_001243766 NM_017739	c.462dupT c.99dupT c.528dupT c.528dupT	p.V155fs p.V34fs p.V177fs p.V177fs	-	-	Li2017 T
POMGNT1	09C81476	chr1: 46658806-46658806	C	T	intronic		De novo					-	5.021E-5	Kosmicki2017 E Satterstrom2020 E

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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