Variant Results

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Results for "L1CAM"

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
L1CAM	SSC08664	chrX: 153135038-153135040	TCA	T	exonic		De novo	frameshift deletion	NM_001143963 NM_000425 NM_024003 NM_001278116	c.1187_1188del c.1202_1203del c.1202_1203del c.1202_1203del	p.V396fs p.V401fs p.V401fs p.V401fs	-	-	Antaki2022 GE Trost2022 G
L1CAM	MCD-020-4	chrX: 153136256-153136256	C	T	exonic		Maternal	nonsynonymous SNV	NM_001143963 NM_000425 NM_024003 NM_001278116	c.G668A c.G683A c.G683A c.G683A	p.R223Q p.R228Q p.R228Q p.R228Q	20.5	3.426E-5	Tuncay2023 G
L1CAM	11118.p1	chrX: 153129950-153129950	T	G	intronic		De novo					-	-	Satterstrom2020 E
L1CAM	SSC02015	chrX: 153129950-153129950	T	G	intronic		De novo					-	-	Trost2022 G
L1CAM	PN400213	chrX: 153135592-153135592	C	T	exonic		Unknown	nonsynonymous SNV	NM_001143963 NM_000425 NM_024003 NM_001278116	c.G895A c.G910A c.G910A c.G910A	p.E299K p.E304K p.E304K p.E304K	32.0	-	Leblond2019 E
L1CAM	Hu2022:64	chrX: 153133875-153133875	C	T	exonic		Unknown	nonsynonymous SNV	NM_001143963 NM_000425 NM_024003 NM_001278116	c.G1570A c.G1585A c.G1585A c.G1585A	p.E524K p.E529K p.E529K p.E529K	12.51	-	Hu2022 T
L1CAM	13739.p1	chrX: 153135038-153135040	TCA	T	exonic		De novo	frameshift deletion	NM_001143963 NM_000425 NM_024003 NM_001278116	c.1187_1188del c.1202_1203del c.1202_1203del c.1202_1203del	p.V396fs p.V401fs p.V401fs p.V401fs	-	-	Dong2014 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Willsey2013 E Zhou2022 GE
L1CAM	PN400118	chrX: 153135592-153135592	C	T	exonic		Unknown	nonsynonymous SNV	NM_001143963 NM_000425 NM_024003 NM_001278116	c.G895A c.G910A c.G910A c.G910A	p.E299K p.E304K p.E304K p.E304K	32.0	-	Leblond2019 E
L1CAM	10155	chrX: 153128238-153128238	C	G	exonic		De novo	nonsynonymous SNV	NM_001143963 NM_024003 NM_000425 NM_001278116	c.G3627C c.G3642C c.G3654C c.G3654C	p.Q1209H p.Q1214H p.Q1218H p.Q1218H	20.7	-	Satterstrom2020 E Trost2022 G Zhou2022 GE

Source Variant Information

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Paper Information

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