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Results for "TTC12"

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
TTC12     AU2951302chr11:
113210699-113210699
CGintronicDe novo--Yuen2017 G
TTC12     12529.p1chr11:
113217317-113217317
GTintronicDe novo--Turner2016 G
TTC12     12795.p1chr11:
113231143-113231143
GAintronicDe novo--Turner2016 G
TTC12     AU2437302chr11:
113225623-113225623
TCintronicDe novo--Yuen2017 G
TTC12     AU2951303chr11:
113210699-113210699
CGintronicDe novo--Yuen2017 G
TTC12     AU4056302chr11:
113225958-113225958
TGintronicDe novo--Yuen2017 G
TTC12     SP0000978chr11:
113210056-113210057
AGAexonicDe novoframeshift deletionNM_017868c.687delGp.K229fs--Feliciano2019 E
TTC12     2-1452-003chr11:
113253817-113253831
TTGTGTGTGTGTGTGTTGTGTGTGTGTGintergenicDe novo--Yuen2017 G
TTC12     2-1605-004chr11:
113196918-113196918
AGintronicDe 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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