Variant Results

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Results for "FLNA"

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
FLNA	AU4239301	chrX: 153601059-153601059	G	C	intronic		De novo					-	-	Yuen2017 G
FLNA	Al-Mubarak2017:ASD-73	chrX: 153579330-153579330	A	G	exonic		Unknown	nonsynonymous SNV	NM_001456 NM_001110556	c.T7079C c.T7103C	p.V2360A p.V2368A	22.3	-	Al-Mubarak2017 E
FLNA	09C86954	chrX: 153586885-153586885	A	C	exonic		De novo	nonsynonymous SNV	NM_001110556 NM_001456	c.T4526G c.T4526G	p.V1509G p.V1509G	22.7	-	Satterstrom2020 E Trost2022 G Zhou2022 GE
FLNA	MCD-020-4	chrX: 153577909-153577909	C	T	exonic		Maternal	nonsynonymous SNV	NM_001456 NM_001110556	c.G7553A c.G7577A	p.S2518N p.S2526N	28.6	-	Tuncay2023 G
FLNA	Li2017:23663	chrX: 153594754-153594754	C	T	exonic		Unknown	nonsynonymous SNV	NM_001110556 NM_001456	c.G1150A c.G1150A	p.V384M p.V384M	12.12	-	Li2017 T
FLNA	Miyake2023:11914	chrX: 153580387-153580387	C	T	exonic		De novo	nonsynonymous SNV	NM_001456 NM_001110556	c.G6748A c.G6772A	p.E2250K p.E2258K	16.3	-	Miyake2023 E
FLNA	JASD_Fam0213	chrX: 153580387-153580387	C	T	exonic		De novo	nonsynonymous SNV	NM_001456 NM_001110556	c.G6748A c.G6772A	p.E2250K p.E2258K	16.3	-	Takata2018 E

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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