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Results for "TOGARAM1"

Variant Events: 21

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     iHART2777chr14:
45535867-45535869		GCTGexonicMaternalframeshift deletionNM_015091
NM_001308120		c.4488_4489del
c.4647_4648del		p.G1496fs
p.G1549fs		--Ruzzo2019 G
TOGARAM1     270-08-110148chr14:
45433489-45433489		CTexonicDe novononsynonymous SNVNM_001308120
NM_015091		c.C1865T
c.C1865T		p.A622V
p.A622V		21.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TOGARAM1     SP0029297chr14:
45475266-45475266		GCexonicsynonymous SNVNM_001308120
NM_015091		c.G2700C
c.G2700C		p.S900S
p.S900S		8.6068.244E-6Zhou2022 GE
TOGARAM1     REACH000582chr14:
45540955-45540956		GTGexonicDe novoframeshift deletionNM_015091
NM_001308120		c.4852delT
c.5011delT		p.F1618fs
p.F1671fs		--Trost2022 G
Zhou2022 GE
TOGARAM1     SP0117374chr14:
45521628-45521628		AGintronicDe novo--Trost2022 G
TOGARAM1     AU3124304chr14:
45473296-45473296		CTexonicPaternalstopgainNM_001308120
NM_015091		c.C2371T
c.C2371T		p.Q791X
p.Q791X		39.0-Cirnigliaro2023 G
TOGARAM1     3-0326-000chr14:
45531720-45531720		AGintronicDe novo--Trost2022 G
TOGARAM1     09C83010chr14:
45432730-45432730		CCTTTTGCAGTTGGGTGexonicDe novononframeshift insertionNM_001308120
NM_015091		c.1106_1107insTTTTGCAGTTGGGTG
c.1106_1107insTTTTGCAGTTGGGTG		p.T369delinsTFAVGC
p.T369delinsTFAVGC		--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TOGARAM1     1-0722-003chr14:
45470236-45470236		TCintronicDe novo--Trost2022 G
TOGARAM1     2-1097-003chr14:
45481365-45481365		ATintronicDe novo--Trost2022 G
TOGARAM1     AU2569301chr14:
45448020-45448021		GAGintronicDe novo--Trost2022 G
TOGARAM1     REACH000428chr14:
45467391-45467391		ATintronicDe novo--Trost2022 G
TOGARAM1     MSSNG00112-003chr14:
45443338-45443338		CTintronicDe novo--Trost2022 G
TOGARAM1     1-0388-003chr14:
45545360-45545360		TCintergenicDe novo--Yuen2017 G
TOGARAM1     2-1384-003chr14:
45490600-45490600		GTintronicDe novo--Trost2022 G
Yuen2017 G
TOGARAM1     mAGRE2778chr14:
45535867-45535869		GCTGexonicMaternalframeshift deletionNM_015091
NM_001308120		c.4488_4489del
c.4647_4648del		p.G1496fs
p.G1549fs		--Cirnigliaro2023 G
TOGARAM1     mAGRE2777chr14:
45535867-45535869		GCTGexonicMaternalframeshift deletionNM_015091
NM_001308120		c.4488_4489del
c.4647_4648del		p.G1496fs
p.G1549fs		--Cirnigliaro2023 G
TOGARAM1     mAGRE1624chr14:
45481239-45481239		ATexonicMaternalstopgainNM_001308120
NM_015091		c.A3199T
c.A3199T		p.K1067X
p.K1067X		41.01.661E-5Cirnigliaro2023 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
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