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Results for "SYNM"

Variant Events: 19

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     14239.p1chr15:
99670264-99670264
CCTGAAGGAGAAGAGexonicDe novounknown--Satterstrom2020 E
Trost2022 G
SYNM     AU0078-0202chr15:
99645492-99645492
GAexonicDe novounknown--Fu2022 E
SYNM     Kim2020:B18chr15:
99671865-99671865
GAexonicDe novounknown-8.944E-6Kim2020 E
SYNM     mAGRE1970chr15:
99671108-99671108
CAexonicMaternalunknown38.04.972E-5Cirnigliaro2023 G
SYNM     mAGRE1321chr15:
99670114-99670114
CTexonicMaternalunknown32.02.677E-5Cirnigliaro2023 G
SYNM     mAGRE5995chr15:
99646188-99646188
TTAexonicPaternalunknown-6.0E-4Cirnigliaro2023 G
SYNM     AU3849302chr15:
99646069-99646069
CTexonicUnknownunknown32.0-Cirnigliaro2023 G
SYNM     mAGRE1767chr15:
99645632-99645632
GGGGCCAexonicPaternalunknown--Cirnigliaro2023 G
SYNM     SP0025551chr15:
99670931-99670931
GAexonicDe novounknown11.18-Fu2022 E
Trost2022 G
Zhou2022 GE
SYNM     iHART1321chr15:
99670114-99670114
CTexonicMaternalunknown32.02.677E-5Ruzzo2019 G
SYNM     SP0096739chr15:
99672968-99672968
AGexonicDe novounknown11.43-Fu2022 E
Trost2022 G
Zhou2022 GE
SYNM     2-1114-003chr15:
99664958-99664958
CTintronicDe novo--Trost2022 G
Yuen2017 G
SYNM     SP0137641chr15:
99673122-99673122
GCexonicDe novounknown16.31-Fu2022 E
Trost2022 G
Zhou2022 GE
SYNM     1-1102-003chr15:
99647849-99647849
TCintronicDe novo--Trost2022 G
SYNM     MSSNG00043-004Achr15:
99659467-99659467
CTintronicDe novo--Trost2022 G
SYNM     iHART1767chr15:
99645632-99645632
GGGGCCAexonicUnknownunknown--Ruzzo2019 G
SYNM     SP0172282chr15:
99645776-99645776
TCexonicDe novounknown15.57-Trost2022 G
SYNM     AU3637301chr15:
99646704-99646704
CTintronicDe novo--Trost2022 G
Yuen2017 G
SYNM     2-1345-003chr15:
99676200-99676200
CTdownstreamDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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