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Results for "TTI2"

Variant Events: 13

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
TTI2     iHART1356chr8:
33367379-33367379		CTexonicMaternalstopgainNM_025115
NM_001102401
NM_001265581		c.G719A
c.G719A
c.G719A		p.W240X
p.W240X
p.W240X		45.0-Ruzzo2019 G
TTI2     PN400170chr8:
33361351-33361351		GAexonicUnknownnonsynonymous SNVNM_025115
NM_001102401
NM_001265581		c.C1030T
c.C1030T
c.C1030T		p.R344W
p.R344W
p.R344W		18.671.0E-4Leblond2019 E
TTI2     PN400455chr8:
33361351-33361351		GAexonicUnknownnonsynonymous SNVNM_025115
NM_001102401
NM_001265581		c.C1030T
c.C1030T
c.C1030T		p.R344W
p.R344W
p.R344W		18.671.0E-4Leblond2019 E
TTI2     PN400554chr8:
33361351-33361351		GAexonicUnknownnonsynonymous SNVNM_025115
NM_001102401
NM_001265581		c.C1030T
c.C1030T
c.C1030T		p.R344W
p.R344W
p.R344W		18.671.0E-4Leblond2019 E
TTI2     PN400540chr8:
33361351-33361351		GAexonicUnknownnonsynonymous SNVNM_025115
NM_001102401
NM_001265581		c.C1030T
c.C1030T
c.C1030T		p.R344W
p.R344W
p.R344W		18.671.0E-4Leblond2019 E
TTI2     mAGRE1925chr8:
33369537-33369537		CAexonicPaternalstopgainNM_025115
NM_001102401
NM_001265581		c.G595T
c.G595T
c.G595T		p.E199X
p.E199X
p.E199X		39.0-Cirnigliaro2023 G
TTI2     PN400349chr8:
33361351-33361351		GAexonicUnknownnonsynonymous SNVNM_025115
NM_001102401
NM_001265581		c.C1030T
c.C1030T
c.C1030T		p.R344W
p.R344W
p.R344W		18.671.0E-4Leblond2019 E
TTI2     mAGRE1356chr8:
33367379-33367379		CTexonicMaternalstopgainNM_025115
NM_001102401
NM_001265581		c.G719A
c.G719A
c.G719A		p.W240X
p.W240X
p.W240X		45.0-Cirnigliaro2023 G
TTI2     PN400530chr8:
33361351-33361351		GAexonicUnknownnonsynonymous SNVNM_025115
NM_001102401
NM_001265581		c.C1030T
c.C1030T
c.C1030T		p.R344W
p.R344W
p.R344W		18.671.0E-4Leblond2019 E
TTI2     2-1094-005chr8:
33366906-33366906		GAintronicDe novo--Trost2022 G
Yuen2017 G
TTI2     AU3912302chr8:
33371098-33371098		GCupstreamDe novo-1.786E-5Trost2022 G
Yuen2017 G
TTI2     PN400108chr8:
33361351-33361351		GAexonicUnknownnonsynonymous SNVNM_025115
NM_001102401
NM_001265581		c.C1030T
c.C1030T
c.C1030T		p.R344W
p.R344W
p.R344W		18.671.0E-4Leblond2019 E
TTI2     1-0986-003chr8:
33400280-33400280		CGintergenicDe 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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