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Results for "SYNM"
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
SYNM
14239.p1
chr15:
99670264-99670264
C
CTGAAGGAGAAGAG
exonic
De novo
unknown
-
-
Satterstrom2020
E
SYNM
AU0078-0202
chr15:
99645492-99645492
G
A
exonic
De novo
unknown
-
-
Fu2022
E
SYNM
Kim2020:B18
chr15:
99671865-99671865
G
A
exonic
De novo
unknown
-
8.944E-6
Kim2020
E
SYNM
SP0025551
chr15:
99670931-99670931
G
A
exonic
De novo
unknown
11.18
-
Fu2022
E
SYNM
iHART1321
chr15:
99670114-99670114
C
T
exonic
Maternal
unknown
32.0
2.677E-5
Ruzzo2019
G
SYNM
SP0096739
chr15:
99672968-99672968
A
G
exonic
De novo
unknown
11.43
-
Fu2022
E
SYNM
2-1114-003
chr15:
99664958-99664958
C
T
intronic
De novo
-
-
Yuen2017
G
SYNM
SP0137641
chr15:
99673122-99673122
G
C
exonic
De novo
unknown
16.31
-
Fu2022
E
SYNM
iHART1767
chr15:
99645632-99645632
G
GGGCCA
exonic
Unknown
unknown
-
-
Ruzzo2019
G
SYNM
AU3637301
chr15:
99646704-99646704
C
T
intronic
De novo
-
-
Yuen2017
G
SYNM
2-1345-003
chr15:
99676200-99676200
C
T
downstream
De 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 notes
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