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Results for "SIX2"

Variant Events: 11

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
SIX2     AU2029303chr2:
45379986-45379986
TCintergenicDe novo--Yuen2017 G
SIX2     08C79293chr2:
45235850-45235850
TAexonicDe novostopgainNM_016932c.A400Tp.K134X41.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SIX2     1-0373-003chr2:
45315304-45315304
CTintergenicDe novo--Yuen2017 G
SIX2     2-0022-004chr2:
45359063-45359063
GAintergenicDe novo--Yuen2017 G
SIX2     2-1456-004chr2:
45341158-45341158
GAintergenicDe novo--Yuen2017 G
SIX2     AU4099301chr2:
45263542-45263542
ATintergenicDe novo--Yuen2017 G
SIX2     AU011021chr2:
45292387-45292387
GAintergenicDe novo--Yuen2017 G
SIX2     2-1085-003chr2:
45245591-45245591
TAintergenicDe novo--Yuen2017 G
SIX2     AU3343301chr2:
45296271-45296271
AGintergenicDe novo--Yuen2017 G
SIX2     2-1272-003chr2:
45331008-45331008
TCintergenicDe novo--Yuen2016 G
SIX2     2-1207-003chr2:
45266108-45266108
GTintergenicDe novo--Yuen2016 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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