Variant Results

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Results for "FGD1"

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
FGD1	1-0080-003	chrX: 54529550-54529552	AGG	AG	intergenic		De novo					-	-	Yuen2017 G
FGD1	7-0035-003	chrX: 54498018-54498018	G	A	intronic		De novo					-	-	Yuen2017 G
FGD1	AU4069302	chrX: 54525240-54525246	AAATATA	AA	intergenic		De novo					-	-	Yuen2017 G
FGD1	D’Gama2015:302	chrX: 54473807-54473807	G	T	exonic		Unknown	nonsynonymous SNV	NM_004463	c.C2517A	p.H839Q	7.298	-	D’Gama2015 T
FGD1	SP0088716	chrX: 54496641-54496641	G	A	exonic			synonymous SNV	NM_004463	c.C909T	p.D303D	-	4.745E-5	Zhou2022 GE
FGD1	AU4234302	chrX: 54520860-54520862	TCC	TC	intronic		De novo					-	-	Yuen2017 G
FGD1	2-1306-003	chrX: 54527746-54527756	ATGGATACCAC	A	intergenic		De novo					-	-	Yuen2017 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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