Variant Results

or

or

Results for "TMIE"

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
TMIE	SP0130795	chr3: 46747308-46747308	C	T	exonic		De novo	nonsynonymous SNV	NM_147196	c.C122T	p.P41L	24.0	1.658E-5	Fu2022 E Trost2022 G Zhou2022 GE
TMIE	2-1166-003	chr3: 46751979-46751979	A	G	UTR3		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
TMIE	AU3713302	chr3: 46751096-46751097	AG	A	exonic		Paternal	frameshift deletion	NM_147196	c.390delG	p.K130fs	-	5.0E-4	Cirnigliaro2023 G
TMIE	4-0062-003	chr3: 46751748-46751749	GG	CT	UTR3		De novo					-	-	Trost2022 G
TMIE	1255JS0001	chr3: 46751073-46751073	T	G	exonic		De novo	nonsynonymous SNV	NM_147196	c.T366G	p.D122E	13.92	7.815E-5	Lim2017 E
TMIE	iHART3149	chr3: 46751096-46751097	AG	A	exonic		Paternal	frameshift deletion	NM_147196	c.390delG	p.K130fs	-	5.0E-4	Ruzzo2019 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More