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Results for "SRSF1"

Variant Events: 9

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
SRSF1     2-1120-003chr17:
56145799-56145799
CTintergenicDe novo--Yuen2017 G
SRSF1     AU1438304chr17:
56084441-56084441
CTexonicDe novononsynonymous SNVNM_001078166
NM_006924
c.G58A
c.G58A
p.V20M
p.V20M
16.71-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SRSF1     Marques2022:122chr17:
56083297-56083297
ACexonicnonsynonymous SNVNM_001078166
NM_006924
c.T417G
c.T417G
p.D139E
p.D139E
13.02-Marques2022 ET
SRSF1     mAGRE2091chr17:
56084441-56084441
CTexonicDe novononsynonymous SNVNM_001078166
NM_006924
c.G58A
c.G58A
p.V20M
p.V20M
16.71-Cirnigliaro2023 G
SRSF1     Marques2022:123chr17:
56084441-56084441
CTexonicnonsynonymous SNVNM_001078166
NM_006924
c.G58A
c.G58A
p.V20M
p.V20M
16.71-Marques2022 ET
SRSF1     SP0080453chr17:
56083179-56083179
TCexonicDe novononsynonymous SNVNM_001078166
NM_006924
c.A535G
c.A535G
p.K179E
p.K179E
15.16-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SRSF1     iHART2091chr17:
56084441-56084441
CTexonicDe novononsynonymous SNVNM_001078166
NM_006924
c.G58A
c.G58A
p.V20M
p.V20M
16.71-Ruzzo2019 G
SRSF1     7-0008-003chr17:
56086516-56086516
ACintergenicDe novo--Yuen2017 G
SRSF1     AU3517302chr17:
56103762-56103771
CCTTTCTTTCCCTTTCintergenicDe 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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