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Results for "ADCY4"

Variant Events: 5

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
ADCY4     152314chr14:
24791282-24791282
CTexonicDe novononsynonymous SNVNM_001198568
NM_001198592
NM_139247
c.G2576A
c.G2576A
c.G2576A
p.R859Q
p.R859Q
p.R859Q
24.81.67E-5Fu2022 E
Satterstrom2020 E
ADCY4     SP0093825chr14:
24791466-24791466
GAintronicDe novo--Fu2022 E
ADCY4     A31chr14:
24800140-24800140
AGintronicDe novo--Wu2018 G
ADCY4     EGAN00001100975chr14:
24803698-24803698
ACsplicingDe novosplicing23.72.0E-4Fu2022 E
Satterstrom2020 E
ADCY4     iHART2633chr14:
24787892-24787893
TGTexonicMaternalframeshift deletionNM_001198568
NM_001198592
NM_139247
c.3048delC
c.3048delC
c.3048delC
p.R1016fs
p.R1016fs
p.R1016fs
-1.648E-5Ruzzo2019 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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