Variant Results

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Results for "GMIP"

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
GMIP	CC1392_201	chr19: 19740846-19740846	A	G	exonic		De novo	synonymous SNV	NM_001288998 NM_001288999 NM_016573	c.T2752C c.T2761C c.T2839C	p.L918L p.L921L p.L947L	-	1.153E-5	Fu2022 E
GMIP	242995868697-C	chr19: 19746316-19746316	C	T	exonic		De novo	nonsynonymous SNV	NM_001288998 NM_001288999 NM_016573	c.G1381A c.G1390A c.G1468A	p.A461T p.A464T p.A490T	25.7	8.291E-6	Fu2022 E
GMIP	Kim2020:B21	chr19: 19748195-19748195	T	A	exonic		De novo	nonsynonymous SNV	NM_001288998 NM_001288999 NM_016573	c.A1103T c.A1103T c.A1103T	p.E368V p.E368V p.E368V	17.06	-	Kim2020 E
GMIP	SP0056923	chr19: 19749114-19749128	GCCGCAGTGCCTGCA	G	exonic			frameshift deletion	NM_001288998 NM_001288999 NM_016573	c.629_642del c.629_642del c.629_642del	p.V210fs p.V210fs p.V210fs	-	-	Zhou2022 GE
GMIP	REACH000731	chr19: 19753326-19753326	A	G	intronic		De novo					-	-	Trost2022 G
GMIP	SP0084485	chr19: 19746529-19746529	G	A	exonic		De novo	synonymous SNV	NM_016573	c.C1329T	p.G443G	-	-	Fu2022 E Trost2022 G Zhou2022 GE
GMIP	3-0800-000	chr19: 19742269-19742269	G	A	intronic		De novo					-	-	Trost2022 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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