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Results for "ANKS6"

Variant Events: 10

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
ANKS6     AU2756306chr9:
101523643-101523643
TCintronicDe novo--Yuen2017 G
ANKS6     AU4007302chr9:
101517513-101517513
CTintronicDe novo--Yuen2017 G
ANKS6     74-0117chr9:
101556845-101556845
GAintronicDe novo--Michaelson2012 G
ANKS6     AU3635301chr9:
101533610-101533610
ATintronicDe novo--Yuen2017 G
ANKS6     AU011704chr9:
101556845-101556845
GAintronicDe novo--Yuen2017 G
ANKS6     2-0043-003chr9:
101530828-101530828
CGintronicDe novo--Yuen2016 G
Yuen2017 G
ANKS6     AU3506302chr9:
101554950-101554950
GAintronicDe novo--Yuen2017 G
ANKS6     AU073003chr9:
101512494-101512494
GAintronicDe novo--Yuen2017 G
ANKS6     13080.p1chr9:
101540675-101540675
CTexonicDe novononsynonymous SNVNM_173551c.G1400Ap.R467Q35.06.747E-5Satterstrom2020 E
Turner2017 G
Wilfert2021 G
ANKS6     SP0054736chr9:
101539703-101539703
GTexonicDe novononsynonymous SNVNM_173551c.C1601Ap.T534K9.067-Feliciano2019 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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