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Results for "SMYD1"

Variant Events: 8

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
SMYD1     1311011chr2:
88407960-88407960
GTexonicDe novononsynonymous SNVNM_198274c.G1216Tp.A406S25.16.0E-4Satterstrom2020 E
SMYD1     AU3725302chr2:
88387190-88387190
TCintronicDe novo--Yuen2017 G
SMYD1     11416.p1chr2:
88396133-88396133
GTexonicDe novononsynonymous SNVNM_198274c.G718Tp.G240C14.37-Satterstrom2020 E
SMYD1     1-0330-004chr2:
88414602-88414602
GAintergenicDe novo--Yuen2017 G
SMYD1     AU051503chr2:
88397688-88397688
CTintronicDe novo--Yuen2017 G
SMYD1     Lim2017:68760chr2:
88409886-88409886
AGexonicDe novononsynonymous SNVNM_198274c.A1328Gp.Q443R24.6-Lim2017 E
SMYD1     10C105976chr2:
88383785-88383785
TGintronicDe novo-7.167E-5Satterstrom2020 E
SMYD1     13381.p1chr2:
88409886-88409886
AGexonicDe novononsynonymous SNVNM_198274c.A1328Gp.Q443R24.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
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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