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Results for "STK10"

Variant Events: 11

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
STK10     1-0402-003chr5:
171494516-171494516
CTintronicDe novo--Yuen2017 G
STK10     11110.p1chr5:
171517199-171517199
CTintronicDe novo--Satterstrom2020 E
STK10     1-0978-003chr5:
171576514-171576514
GAintronicDe novo--Yuen2017 G
STK10     7-0133-003chr5:
171503294-171503295
GCGintronicDe novo--Yuen2017 G
STK10     iHART1295chr5:
171509964-171509964
CTsplicingMaternalsplicing13.68.237E-6Ruzzo2019 G
STK10     14153.p1chr5:
171500972-171500972
TAintronicDe novo--Turner2016 G
STK10     SP0015507chr5:
171520738-171520738
CTexonicDe novononsynonymous SNVNM_005990c.G1232Ap.R411Q11.968.267E-6Feliciano2019 E
STK10     2-0088-003chr5:
171503158-171503158
AGintronicDe novo--Yuen2017 G
STK10     2-1299-003chr5:
171503281-171503281
GAintronicDe novo--Yuen2017 G
STK10     11298.p1chr5:
171471788-171471788
CTUTR3De novo-2.594E-5Satterstrom2020 E
STK10     2-1508-004chr5:
171475863-171475863
CAintronicDe 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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