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Results for "ABCC12"

Variant Events: 7

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
ABCC12     iHART3090chr16:
48175263-48175264
ATAexonicPaternalframeshift deletionNM_033226c.276delAp.R92fs--Ruzzo2019 G
ABCC12     iHART2055chr16:
48139170-48139170
GTexonicPaternalstopgainNM_033226c.C2553Ap.Y851X38.0-Ruzzo2019 G
ABCC12     1-0246-005chr16:
48125941-48125941
GAintronicDe novo--Yuen2017 G
ABCC12     NDAR_INVJF959YMH_wes1chr16:
48174756-48174756
TCexonicDe novononsynonymous SNVNM_033226c.A499Gp.I167V0.067-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ABCC12     09C98146chr16:
48175156-48175156
CTexonicDe novosynonymous SNVNM_033226c.G384Ap.V128V--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ABCC12     5069_202_childchr16:
48175156-48175156
CTexonicDe novosynonymous SNVNM_033226c.G384Ap.V128V--Neale2012 E
ABCC12     2-1737-003chr16:
48168539-48168539
CTintronicDe novo--Yuen2017 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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