Variant Results

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Results for "REPIN1"

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
REPIN1	NDAR_INVEB022VLQ_wes1	chr7: 150068799-150068799	C	T	exonic		De novo	stopgain	NM_014374 NM_001099696 NM_001099695 NM_013400	c.C469T c.C469T c.C640T c.C469T	p.R157X p.R157X p.R214X p.R157X	21.5	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
REPIN1	mAGRE1848	chr7: 150066837-150066838	CT	C	exonic		Maternal	frameshift deletion	NM_001099695	c.38delT	p.L13fs	-	-	Cirnigliaro2023 G
REPIN1	1-0918-003	chr7: 150069491-150069491	G	A	exonic		De novo	synonymous SNV	NM_014374 NM_001099696 NM_001099695 NM_013400	c.G1161A c.G1161A c.G1332A c.G1161A	p.E387E p.E387E p.E444E p.E387E	-	-	Trost2022 G Yuen2017 G Zhou2022 GE
REPIN1	11003.p1	chr7: 150068814-150068814	G	A	exonic		Mosaic, De novo	nonsynonymous SNV	NM_014374 NM_001099696 NM_001099695 NM_013400	c.G484A c.G484A c.G655A c.G484A	p.A162T p.A162T p.A219T p.A162T	15.53	-	Dou2017 E Ji2016 E Krumm2015 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
REPIN1	iHART1848	chr7: 150066837-150066838	CT	C	exonic		Maternal	frameshift deletion	NM_001099695	c.38delT	p.L13fs	-	-	Ruzzo2019 G
REPIN1	11003_p1	chr7: 150068814-150068814	G	A	exonic		De novo	nonsynonymous SNV	NM_014374 NM_001099696 NM_001099695 NM_013400	c.G484A c.G484A c.G655A c.G484A	p.A162T p.A162T p.A219T p.A162T	15.53	-	Fu2022 E
REPIN1	SP0082495	chr7: 150066711-150066711	C	T	intronic		De novo					-	-	Trost2022 G

Source Variant Information

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Paper Information

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