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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_wes1chr14:
45431638-45431638
CGexonicDe novononsynonymous SNVNM_001308120
NM_015091
c.C14G
c.C14G
p.P5R
p.P5R
14.313.73E-5Lim2017 E
TOGARAM1     iHART1624chr14:
45481239-45481239
ATexonicMaternalstopgainNM_001308120
NM_015091
c.A3199T
c.A3199T
p.K1067X
p.K1067X
41.01.661E-5Ruzzo2019 G
TOGARAM1     iHART2778chr14:
45535867-45535869
GCTGexonicMaternalframeshift deletionNM_015091
NM_001308120
c.4488_4489del
c.4647_4648del
p.G1496fs
p.G1549fs
--Ruzzo2019 G
TOGARAM1     09C83010chr14:
45432730-45432730
CCTTTTGCAGTTGGGTGexonicDe novononframeshift insertionNM_001308120
NM_015091
c.1106_1107insTTTTGCAGTTGGGTG
c.1106_1107insTTTTGCAGTTGGGTG
p.T369delinsTFAVGC
p.T369delinsTFAVGC
--Satterstrom2020 E
TOGARAM1     iHART2777chr14:
45535867-45535869
GCTGexonicMaternalframeshift deletionNM_015091
NM_001308120
c.4488_4489del
c.4647_4648del
p.G1496fs
p.G1549fs
--Ruzzo2019 G
TOGARAM1     1-0388-003chr14:
45545360-45545360
TCintergenicDe novo--Yuen2017 G
TOGARAM1     270-08-110148chr14:
45433489-45433489
CTexonicDe novononsynonymous SNVNM_001308120
NM_015091
c.C1865T
c.C1865T
p.A622V
p.A622V
21.0-Satterstrom2020 E
TOGARAM1     2-1384-003chr14:
45490600-45490600
GTintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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