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Results for "TC2N"

Variant Events: 9

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
TC2N     iHART2489chr14:
92251698-92251698
GGAexonicPaternalframeshift insertionNM_001289134
NM_001128595
NM_001128596
NM_152332
c.977dupT
c.1169dupT
c.1169dupT
c.1169dupT
p.F326fs
p.F390fs
p.F390fs
p.F390fs
-1.0E-4Ruzzo2019 G
TC2N     1-0496-003chr14:
92268842-92268842
AGintronicDe novo--Yuen2016 G
Yuen2017 G
TC2N     AU3605303chr14:
92281643-92281643
GTintronicDe novo--Yuen2017 G
TC2N     iHART2490chr14:
92251698-92251698
GGAexonicPaternalframeshift insertionNM_001289134
NM_001128595
NM_001128596
NM_152332
c.977dupT
c.1169dupT
c.1169dupT
c.1169dupT
p.F326fs
p.F390fs
p.F390fs
p.F390fs
-1.0E-4Ruzzo2019 G
TC2N     AU2000302chr14:
92279894-92279894
AGintronicDe novo--Yuen2017 G
TC2N     SP0122570chr14:
92268709-92268709
GTexonicDe novononsynonymous SNVNM_001128595
NM_001128596
NM_001289134
NM_152332
c.C358A
c.C358A
c.C358A
c.C358A
p.H120N
p.H120N
p.H120N
p.H120N
9.021-Fu2022 E
TC2N     2-1210-003chr14:
92313921-92313921
AGintronicDe novo--Yuen2017 G
TC2N     80001102279chr14:
92278816-92278816
AGexonicDe novosynonymous SNVNM_001128595
NM_001128596
NM_001289134
NM_152332
c.T141C
c.T141C
c.T141C
c.T141C
p.T47T
p.T47T
p.T47T
p.T47T
--Fu2022 E
Lim2017 E
TC2N     AU2495301chr14:
92257388-92257388
GAintronicDe 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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