Variant Results

or

or

Results for "TOGARAM1"

Variant Events: 8

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
TOGARAM1	NDAR_INVZV128TMX_wes1	chr14: 45431638-45431638	C	G	exonic		De novo	nonsynonymous SNV	NM_001308120 NM_015091	c.C14G c.C14G	p.P5R p.P5R	14.31	3.73E-5	Lim2017 E
TOGARAM1	iHART1624	chr14: 45481239-45481239	A	T	exonic		Maternal	stopgain	NM_001308120 NM_015091	c.A3199T c.A3199T	p.K1067X p.K1067X	41.0	1.661E-5	Ruzzo2019 G
TOGARAM1	iHART2778	chr14: 45535867-45535869	GCT	G	exonic		Maternal	frameshift deletion	NM_015091 NM_001308120	c.4488_4489del c.4647_4648del	p.G1496fs p.G1549fs	-	-	Ruzzo2019 G
TOGARAM1	iHART2777	chr14: 45535867-45535869	GCT	G	exonic		Maternal	frameshift deletion	NM_015091 NM_001308120	c.4488_4489del c.4647_4648del	p.G1496fs p.G1549fs	-	-	Ruzzo2019 G
TOGARAM1	270-08-110148	chr14: 45433489-45433489	C	T	exonic		De novo	nonsynonymous SNV	NM_001308120 NM_015091	c.C1865T c.C1865T	p.A622V p.A622V	21.0	-	Fu2022 E Satterstrom2020 E
TOGARAM1	09C83010	chr14: 45432730-45432730	C	CTTTTGCAGTTGGGTG	exonic		De novo	nonframeshift insertion	NM_001308120 NM_015091	c.1106_1107insTTTTGCAGTTGGGTG c.1106_1107insTTTTGCAGTTGGGTG	p.T369delinsTFAVGC p.T369delinsTFAVGC	-	-	Satterstrom2020 E
TOGARAM1	1-0388-003	chr14: 45545360-45545360	T	C	intergenic		De novo					-	-	Yuen2017 G
TOGARAM1	2-1384-003	chr14: 45490600-45490600	G	T	intronic		De novo					-	-	Yuen2017 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