Variant Results

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Results for "FNBP4"

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
FNBP4	AU3885304	chr11: 47772257-47772276	AAAAAAAAAAAAAGAAAAAA	AAAAAAA	intronic		De novo					-	-	Yuen2017 G
FNBP4	2-1686-003	chr11: 47775383-47775383	C	A	intronic		De novo					-	-	Trost2022 G
FNBP4	7-0082-003	chr11: 47785018-47785018	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
FNBP4	mAGRE5947	chr11: 47745699-47745699	C	CTAGA	exonic		Maternal	stopgain	NM_015308	c.2344_2345insTCTA	p.S782_S783delinsIX	-	-	Cirnigliaro2023 G
FNBP4	mAGRE5946	chr11: 47745699-47745699	C	CTAGA	exonic		Maternal	stopgain	NM_015308	c.2344_2345insTCTA	p.S782_S783delinsIX	-	-	Cirnigliaro2023 G
FNBP4	SP0013743	chr11: 47745767-47745767	T	G	intronic		De novo					-	-	Fu2022 E
FNBP4	SP0033221	chr11: 47767836-47767839	CTCT	C	exonic		De novo	nonframeshift deletion	NM_015308	c.1014_1016del	p.338_339del	-	8.283E-6	Feliciano2019 E Trost2022 G
FNBP4	SP0005107	chr11: 47765738-47765738	G	C	intronic		De novo					-	-	Fu2022 E
FNBP4	SSC03248	chr11: 47788778-47788779	AC	A	exonic		De novo	frameshift deletion	NM_015308	c.62delG	p.G21fs	-	-	Antaki2022 GE Trost2022 G
FNBP4	11700.p1	chr11: 47788778-47788779	AC	A	exonic		De novo	frameshift deletion	NM_015308	c.62delG	p.G21fs	-	-	Satterstrom2020 E Turner2017 G Wilfert2021 G Zhou2022 GE

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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