Variant Results

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Results for "IFT122"

Variant Events: 5

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
IFT122	AU4372309	chr3: 129208699-129208699	A	T	intronic		De novo					-	-	Yuen2017 G
IFT122	PN400396	chr3: 129221570-129221570	C	T	exonic		Inherited	nonsynonymous SNV	NM_052990 NM_001280546 NM_018262 NM_001280541 NM_052989 NM_001280545 NM_052985	c.C2059T c.C1765T c.C2215T c.C2368T c.C2392T c.C1942T c.C2545T	p.R687C p.R589C p.R739C p.R790C p.R798C p.R648C p.R849C	24.2	4.128E-5	Leblond2019 E
IFT122	13266.p1	chr3: 129239066-129239066	C	G	exonic		De novo	nonsynonymous SNV	NM_052990 NM_001280546 NM_018262 NM_001280541 NM_052989 NM_001280545 NM_052985	c.C3354G c.C3057G c.C3507G c.C3663G c.C3684G c.C3234G c.C3837G	p.C1118W p.C1019W p.C1169W p.C1221W p.C1228W p.C1078W p.C1279W	13.59	1.839E-5	Ji2016 E Krumm2015 E
IFT122	JASD_Fam0046	chr3: 129185800-129185800	A	G	exonic		De novo	nonsynonymous SNV	NM_052989 NM_001280545 NM_052985	c.A631G c.A181G c.A784G	p.I211V p.I61V p.I262V	10.4	-	Takata2018 E
IFT122	A26	chr3: 129240868-129240868	G	A	intergenic		De novo					-	-	Wu2018 G

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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