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Results for "ADCY6"

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
ADCY6     F10314-4chr12:
49167420-49167420
CTexonicDe novononsynonymous SNVNM_015270c.G2453Ap.G818E11.06-Satterstrom2020 E
ADCY6     PN400506chr12:
49165650-49165650
CTexonicUnknownnonsynonymous SNVNM_015270c.G2894Ap.R965H20.00.001Leblond2019 E
ADCY6     74-0355chr12:
49173603-49173603
CTintronicDe novo--Michaelson2012 G
ADCY6     PN400372chr12:
49165650-49165650
CTexonicUnknownnonsynonymous SNVNM_015270c.G2894Ap.R965H20.00.001Leblond2019 E
ADCY6     1-0496-003chr12:
49168253-49168253
GAexonicDe novononsynonymous SNVNM_015270c.C2215Tp.R739W20.67.416E-5Yuen2016 G
Yuen2017 G
ADCY6     PN400241chr12:
49165650-49165650
CTexonicUnknownnonsynonymous SNVNM_015270c.G2894Ap.R965H20.00.001Leblond2019 E
ADCY6     PN400127chr12:
49165650-49165650
CTexonicUnknownnonsynonymous SNVNM_015270c.G2894Ap.R965H20.00.001Leblond2019 E
ADCY6     PN400521chr12:
49165650-49165650
CTexonicUnknownnonsynonymous SNVNM_015270c.G2894Ap.R965H20.00.001Leblond2019 E
ADCY6     12295.p1chr12:
49177062-49177062
TGexonicDe novosynonymous SNVNM_015270c.A156Cp.P52P-7.251E-5Satterstrom2020 E
ADCY6     12794.p1chr12:
49169418-49169418
GCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ADCY6     14496.p1chr12:
49182732-49182732
GCUTR5De novo--Turner2016 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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