Variant Results

or

or

Results for "FGF5"

Variant Events: 10

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
FGF5	Al-Mubarak2017:ASD-73	chr4: 81188229-81188229	C	T	exonic		Unknown	nonsynonymous SNV	NM_004464 NM_033143	c.C251T c.C251T	p.S84L p.S84L	22.0	-	Al-Mubarak2017 E
FGF5	iHART2700	chr4: 81196089-81196091	CAG	C	exonic		Maternal	frameshift deletion	NM_004464	c.383_384del	p.Q128fs	-	-	Ruzzo2019 G
FGF5	AU058103	chr4: 81207460-81207460	C	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
FGF5	mAGRE6046	chr4: 81196107-81196107	C	T	exonic		Paternal	stopgain	NM_004464	c.C400T	p.R134X	33.0	8.305E-5	Cirnigliaro2023 G
FGF5	mAGRE2700	chr4: 81196089-81196091	CAG	C	exonic		Maternal	frameshift deletion	NM_004464	c.383_384del	p.Q128fs	-	-	Cirnigliaro2023 G
FGF5	AU058103	chr4: 81207851-81207851	C	G	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
FGF5	AU4069302	chr4: 81238996-81238996	T	A	intergenic		De novo					-	-	Yuen2017 G
FGF5	2-1605-003	chr4: 81219579-81219579	A	G	intergenic		De novo					-	-	Yuen2017 G
FGF5	MSSNG00257-003	chr4: 81203940-81203940	T	G	intronic		De novo					-	-	Trost2022 G
FGF5	SP0144316	chr4: 81207643-81207643	C	G	exonic		De novo	synonymous SNV	NM_001291812 NM_004464	c.C195G c.C624G	p.P65P p.P208P	-	-	Fu2022 E Trost2022 G Zhou2022 GE

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More