Variant Results

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Results for "IFITM5"

Variant Events: 4

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
IFITM5	iHART2939	chr11: 298635-298635	C	T	exonic		De novo	nonsynonymous SNV	NM_001025295	c.G265A	p.A89T	32.0	-	Ruzzo2019 G
IFITM5	iHART2726	chr11: 299482-299482	C	CGT	exonic		Maternal	frameshift insertion	NM_001025295	c.8_9insAC	p.T3fs	-	-	Ruzzo2019 G
IFITM5	NDAR_INVYL539LYE_wes1	chr11: 298710-298710	G	A	exonic			stopgain	NM_001025295	c.C190T	p.R64X	20.3	7.198E-5	Doan2019 E
IFITM5	ASC_1J567	chr11: 298630-298630	C	A	exonic		De novo	synonymous SNV	NM_001025295	c.G270T	p.A90A	-	-	Fu2022 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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