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Results for "SYNM"

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
SYNM     iHART1321chr15:
99670114-99670114
CTexonicMaternalunknown32.02.677E-5Ruzzo2019 G
SYNM     14239.p1chr15:
99670264-99670264
CCTGAAGGAGAAGAGexonicDe novounknown--Satterstrom2020 E
SYNM     2-1114-003chr15:
99664958-99664958
CTintronicDe novo--Yuen2017 G
SYNM     iHART1767chr15:
99645632-99645632
GGGGCCAexonicUnknownunknown--Ruzzo2019 G
SYNM     AU3637301chr15:
99646704-99646704
CTintronicDe novo--Yuen2017 G
SYNM     Kim2020:B18chr15:
99671865-99671865
GAexonicDe novounknown-8.944E-6Kim2020 E
SYNM     2-1345-003chr15:
99676200-99676200
CTdownstreamDe 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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