Variant Results

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Results for "HNRNPF"

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
HNRNPF	1-0215-006	chr10: 43924664-43924664	A	T	intergenic		De novo					-	-	Yuen2017 G
HNRNPF	AU3399302	chr10: 43924453-43924453	G	T	intergenic		De novo					-	-	Yuen2017 G
HNRNPF	NP152	chr10: 43882148-43882148	C	T	exonic		De novo	synonymous SNV	NM_001098208 NM_001098204 NM_001098205 NM_001098206 NM_001098207 NM_004966	c.G1185A c.G1185A c.G1185A c.G1185A c.G1185A c.G1185A	p.Q395Q p.Q395Q p.Q395Q p.Q395Q p.Q395Q p.Q395Q	-	1.67E-5	Fu2022 E Lim2017 E Satterstrom2020 E
HNRNPF	5311	chr10: 43883191-43883191	T	C	exonic		De novo	nonsynonymous SNV	NM_001098208 NM_001098204 NM_001098205 NM_001098206 NM_001098207 NM_004966	c.A142G c.A142G c.A142G c.A142G c.A142G c.A142G	p.T48A p.T48A p.T48A p.T48A p.T48A p.T48A	10.65	-	Fu2022 E
HNRNPF	AU3907302	chr10: 43887327-43887327	T	C	intronic		De novo					-	-	Yuen2017 G
HNRNPF	Lim2017:5311	chr10: 43883191-43883191	T	C	exonic		De novo	nonsynonymous SNV	NM_001098208 NM_001098204 NM_001098205 NM_001098206 NM_001098207 NM_004966	c.A142G c.A142G c.A142G c.A142G c.A142G c.A142G	p.T48A p.T48A p.T48A p.T48A p.T48A p.T48A	10.65	-	Lim2017 E
HNRNPF	1-0972-003	chr10: 43882699-43882699	G	A	exonic		De novo, Unknown	nonsynonymous SNV	NM_001098208 NM_001098204 NM_001098205 NM_001098206 NM_001098207 NM_004966	c.C634T c.C634T c.C634T c.C634T c.C634T c.C634T	p.R212W p.R212W p.R212W p.R212W p.R212W p.R212W	14.22	-	Wang2020 T Yuen2017 G
HNRNPF	11043.p1	chr10: 43883191-43883191	T	C	exonic		De novo, Unknown	nonsynonymous SNV	NM_001098208 NM_001098204 NM_001098205 NM_001098206 NM_001098207 NM_004966	c.A142G c.A142G c.A142G c.A142G c.A142G c.A142G	p.T48A p.T48A p.T48A p.T48A p.T48A p.T48A	10.65	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Wang2020 T Wilfert2021 G
HNRNPF	3-0209-000	chr10: 43921790-43921790	T	A	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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