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Results for "STK32C"

Variant Events: 13

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
STK32C     7-0161-003chr10:
134039060-134039060
GAexonicDe novononsynonymous SNVNM_173575c.C743Tp.T248M20.83.303E-5Yuen2017 G
STK32C     1-0756-003chr10:
134113654-134113654
GAintronicDe novo--Yuen2017 G
STK32C     5-0138-003chr10:
134134391-134134391
CTintergenicDe novo--Yuen2017 G
STK32C     2-1358-003chr10:
134121129-134121129
GAexonicDe novononsynonymous SNVNM_173575c.C209Tp.S70L15.19-Yuen2017 G
STK32C     2-1281-003chr10:
134068510-134068510
CTintronicDe novo--Yuen2017 G
STK32C     AU4250301chr10:
134115376-134115376
CTintronicDe novo--Yuen2017 G
STK32C     DEASD_1090_001chr10:
134062552-134062552
GCintronicDe novo--Satterstrom2020 E
STK32C     2-1644-004chr10:
134037245-134037245
CTintronicDe novo--Yuen2017 G
STK32C     63-343chr10:
134025921-134025921
ATintronicDe novo--Michaelson2012 G
STK32C     AU050603chr10:
134072128-134072128
GAintronicDe novo--Yuen2017 G
STK32C     AU4412302chr10:
134128570-134128570
GAintergenicDe novo--Yuen2017 G
STK32C     2-1255-003chr10:
134054751-134054751
CAintronicDe novo--Yuen2016 G
Yuen2017 G
STK32C     11377.p1chr10:
134027769-134027769
TTGGGGGTGintronicMaternal--Wilfert2021 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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