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Results for "TMEM260"

Variant Events: 12

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
TMEM260     1-0401-003chr14:
57206457-57206457
AGintergenicDe novo--Yuen2017 G
TMEM260     AU3371302chr14:
57172581-57172581
GAintergenicDe novo--Yuen2017 G
TMEM260     iHART2666chr14:
57084016-57084016
GTsplicingPaternalsplicing15.458.581E-6Ruzzo2019 G
TMEM260     2-1592-003chr14:
57244327-57244327
CGintergenicDe novo--Yuen2017 G
TMEM260     iHART2023chr14:
57075927-57075927
GAexonicPaternalstopgainNM_017799c.G740Ap.W247X38.0-Ruzzo2019 G
TMEM260     AU2075301chr14:
57076225-57076225
ACintronicDe novo--Yuen2017 G
TMEM260     3-0439-000chr14:
57110990-57110990
CGintronicDe novo--Yuen2016 G
TMEM260     iHART2665chr14:
57084016-57084016
GTsplicingPaternalsplicing15.458.581E-6Ruzzo2019 G
TMEM260     11002.p1chr14:
57240225-57240225
AGintergenicDe novo--Turner2016 G
TMEM260     11002.p1chr14:
57240251-57240251
TAintergenicDe novo--Turner2016 G
TMEM260     1-0028-003chr14:
57067271-57067271
CTintronicDe novo--Yuen2017 G
TMEM260     AU066818chr14:
57150416-57150416
CTintergenicDe 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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