Variant Results

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Results for "FGFR4"

Variant Events: 6

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
FGFR4	SP0094806	chr5: 176519521-176519521	T	C	intronic		De novo					-	-	Fu2022 E
FGFR4	200675533_1082034276	chr5: 176520523-176520523	C	T	exonic		De novo	synonymous SNV	NM_022963 NM_002011 NM_213647	c.C1248T c.C1368T c.C1368T	p.L416L p.L456L p.L456L	7.913	1.657E-5	Fu2022 E
FGFR4	08C77057	chr5: 176518701-176518701	T	C	exonic		De novo	nonsynonymous SNV	NM_022963 NM_001291980 NM_002011 NM_213647	c.T619C c.T619C c.T619C c.T619C	p.W207R p.W207R p.W207R p.W207R	17.16	-	Fu2022 E
FGFR4	74-0481	chr5: 176524669-176524669	C	T	exonic		Inherited	stopgain	NM_022963 NM_001291980 NM_002011 NM_213647	c.C2281T c.C2197T c.C2401T c.C2401T	p.Q761X p.Q733X p.Q801X p.Q801X	23.3	-	Patowary2019 E
FGFR4	458-09-112046	chr5: 176523232-176523232	G	A	intronic		De novo					-	7.0E-4	Satterstrom2020 E
FGFR4	Chen2017:75	chr5: 176520523-176520523	C	T	exonic		De novo	synonymous SNV	NM_022963 NM_002011 NM_213647	c.C1248T c.C1368T c.C1368T	p.L416L p.L456L p.L456L	7.913	1.657E-5	Chen2017 E

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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