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Results for "TTC16"

Variant Events: 4

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
TTC16     JASD_Fam0095chr9:
130487112-130487112
GAexonicDe novononsynonymous SNVNM_001317037
NM_144965
c.G1156A
c.G1195A
p.E386K
p.E399K
12.07-Takata2018 E
TTC16     2-0057-003chr9:
130491624-130491624
GAintronicDe novo--Yuen2017 G
TTC16     2-1339-003chr9:
130491771-130491771
AGintronicDe novo--Yuen2017 G
TTC16     EGAN00001101029chr9:
130492892-130492892
TGintronicDe novo-1.0E-4Satterstrom2020 E
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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