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Results for "INTS12"

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
INTS12     1-0252-003chr4:
106606885-106606885
AGintronicDe novo--Trost2022 G
Yuen2017 G
INTS12     MSSNG00045-003chr4:
106606473-106606473
CGintronicDe novo--Trost2022 G
INTS12     SP0155656chr4:
106607937-106607937
GAexonicDe novononsynonymous SNVNM_001142471
NM_020395
c.C716T
c.C716T
p.P239L
p.P239L
32.0-Trost2022 G
INTS12     Shi2013:2chr4:
106621056-106621056
TCexonicInheritednonsynonymous SNVNM_001142471
NM_020395
c.A107G
c.A107G
p.D36G
p.D36G
28.4-Shi2013 G
INTS12     2-1288-003chr4:
106615882-106615882
CTintronicDe novo--Trost2022 G
Yuen2017 G
INTS12     Shi2013:1chr4:
106621056-106621056
TCexonicInheritednonsynonymous SNVNM_001142471
NM_020395
c.A107G
c.A107G
p.D36G
p.D36G
28.4-Shi2013 G
INTS12     AU3997301chr4:
106627979-106627979
CTintronicDe novo--Trost2022 G
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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