or
or
Exact

Results for "AK8"

Variant Events: 22

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
AK8     AU4378301chr9:
135721970-135721970
GAintronicDe novo--Yuen2017 G
AK8     SP0072416chr9:
135668126-135668126
CTexonicDe novononsynonymous SNVNM_152572c.G1016Ap.R339H16.461.0E-4Fu2022 E
AK8     M17485chr9:
135602922-135602922
CAsplicingUnknownsplicing7.168-Guo2018 T
AK8     13023.p1chr9:
135725414-135725414
AGintronicDe novo--Turner2016 G
AK8     2-1456-004chr9:
135654316-135654316
TTGACAAAATAGTCAAAAintronicDe novo--Yuen2017 G
AK8     GAU0046Cchr9:
135704140-135704140
CGintronicDe novo--Satterstrom2020 E
AK8     1-0487-003chr9:
135751620-135751620
GAintronicDe novo--Yuen2016 G
Yuen2017 G
AK8     2-1235-003chr9:
135644711-135644711
TTCintronicDe novo--Yuen2017 G
AK8     iHART1652chr9:
135702392-135702393
GTGexonicPaternalframeshift deletionNM_152572c.605delAp.N202fs-7.413E-5Ruzzo2019 G
AK8     SP0048331chr9:
135730295-135730295
CGexonicDe novosynonymous SNVNM_152572c.G351Cp.L117L--Fu2022 E
AK8     A22chr9:
135710459-135710459
GAintronicDe novo--Wu2018 G
AK8     iHART1651chr9:
135702392-135702393
GTGexonicPaternalframeshift deletionNM_152572c.605delAp.N202fs-7.413E-5Ruzzo2019 G
AK8     iHART1653chr9:
135702392-135702393
GTGexonicPaternalframeshift deletionNM_152572c.605delAp.N202fs-7.413E-5Ruzzo2019 G
AK8     1-0402-004chr9:
135654316-135654316
TTGACAAAATAGTCAAAAintronicDe novo--Yuen2017 G
AK8     AU3782303chr9:
135687908-135687908
GTintronicDe novo--Yuen2017 G
AK8     2-0144-003chr9:
135607706-135607706
TCintronicDe novo--Yuen2017 G
AK8     2-1734-003chr9:
135620439-135620439
GAintronicDe novo--Yuen2017 G
AK8     AU4186302chr9:
135723653-135723653
ATintronicDe novo--Yuen2017 G
AK8     11604.p1chr9:
135683852-135683853
GCGintronicDe novo--Wilfert2021 G
AK8     2-1605-004chr9:
135657449-135657449
GAintronicDe novo--Yuen2017 G
AK8     AU1795303chr9:
135628327-135628327
AGintronicDe novo--Yuen2017 G
AK8     AU2863303chr9:
135639357-135639357
ATintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More