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Results for "STK31"

Variant Events: 34

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
STK31     2-0102-003chr7:
23892225-23892225
TAintergenicDe novo--Yuen2017 G
STK31     AU2100302chr7:
23763850-23763850
TCintronicDe novo--Yuen2017 G
STK31     1-0218-004chr7:
23804725-23804725
AAGintronicDe novo--Yuen2017 G
STK31     1-0175-003chr7:
23831057-23831061
CAAAGCintronicDe novo--Yuen2017 G
STK31     1-0144-005chr7:
23833234-23833234
AGintronicDe novo--Yuen2017 G
STK31     1-0563-003chr7:
24224401-24224401
CTintergenicDe novo--Yuen2017 G
STK31     AU3124302chr7:
23774814-23774814
CTintronicDe novo--Yuen2017 G
STK31     1-0274-003chr7:
23903866-23903866
CTintergenicDe novo--Yuen2017 G
STK31     SSC07699chr7:
23776560-23776560
AGexonicDe novononsynonymous SNVNM_001260504
NM_001260505
NM_031414
NM_032944
c.A811G
c.A880G
c.A880G
c.A811G
p.N271D
p.N294D
p.N294D
p.N271D
23.2-Lim2017 E
STK31     2-0307-004chr7:
24237629-24237629
GAintergenicDe novo--Yuen2017 G
STK31     AU079605chr7:
24106778-24106778
ATintergenicDe novo--Yuen2017 G
STK31     13520.p1chr7:
23776560-23776560
AGexonicDe novononsynonymous SNVNM_001260504
NM_001260505
NM_031414
NM_032944
c.A811G
c.A880G
c.A880G
c.A811G
p.N271D
p.N294D
p.N294D
p.N271D
23.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
STK31     2-0109-003chr7:
24011074-24011074
CTintergenicDe novo--Yuen2017 G
STK31     2-1427-003chr7:
24052692-24052692
ATintergenicDe novo--Yuen2017 G
STK31     13023.p1chr7:
23947218-23947218
TCintergenicDe novo--Turner2016 G
STK31     12175.p1chr7:
24147692-24147692
GAintergenicDe novo--Turner2016 G
STK31     7-0023-003chr7:
24064814-24064814
AGintergenicDe novo--Yuen2017 G
STK31     AU069603chr7:
23781984-23781984
CAintronicDe novo--Yuen2017 G
STK31     2-1357-004chr7:
24207403-24207403
TTACintergenicDe novo--Yuen2017 G
STK31     3-0307-000chr7:
23919568-23919568
CAintergenicDe novo--Yuen2017 G
STK31     AU072504chr7:
24098768-24098768
AGintergenicDe novo--Yuen2017 G
STK31     1-0274-004chr7:
23903866-23903866
CTintergenicDe novo--Yuen2017 G
STK31     7-0067-003chr7:
24130994-24130994
TCintergenicDe novo--Yuen2017 G
STK31     1-0175-004chr7:
23831057-23831061
CAAAGCintronicDe novo--Yuen2017 G
STK31     1-0972-003chr7:
24032050-24032050
CTintergenicDe novo--Yuen2017 G
STK31     ASC_142560chr7:
23768757-23768757
AGexonicDe novosynonymous SNVNM_001260504
NM_001260505
NM_031414
NM_032944
c.A303G
c.A372G
c.A372G
c.A303G
p.R101R
p.R124R
p.R124R
p.R101R
--Satterstrom2020 E
STK31     AU011604chr7:
24120025-24120025
CTintergenicDe novo--Yuen2017 G
STK31     AU063004chr7:
24213856-24213856
GAintergenicDe novo--Yuen2017 G
STK31     AU4235301chr7:
24107794-24107794
TGintergenicDe novo--Yuen2017 G
STK31     2-1391-003chr7:
24069227-24069227
TGintergenicDe novo--Yuen2017 G
STK31     AU070007chr7:
24029793-24029793
AGintergenicDe novo--Yuen2017 G
STK31     A19chr7:
24221711-24221711
TCintergenicDe novo--Wu2018 G
STK31     AU012804chr7:
23977944-23977944
AGintergenicDe novo--Yuen2017 G
STK31     2-1466-003chr7:
23900603-23900603
AGintergenicDe novo--Yuen2016 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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