or
or
Exact

Results for "SRSF7"

Variant Events: 14

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
SRSF7     31.s1chr2:
38975221-38975221
CCCexonicDe novoframeshift insertionNM_001031684
NM_001195446
c.539dupG
c.539dupG
p.R180fs
p.R180fs
--An2014 E
SRSF7     AU3951302chr2:
39002503-39002524
AAAACAAACAAACAAACAAACAAAAACAAACAAACAintergenicDe novo--Yuen2017 G
SRSF7     14153.p1chr2:
38994722-38994722
GAintergenicDe novo--Turner2016 G
SRSF7     7-0106-003chr2:
38991054-38991054
TCintergenicDe novo--Yuen2017 G
SRSF7     200675762@1082034441chr2:
38978339-38978339
CAintronicDe novo-8.238E-6Satterstrom2020 E
SRSF7     PN400257chr2:
38976658-38976663
TTAAAATintronicUnknown-0.0088Leblond2019 E
SRSF7     PN400312chr2:
38976658-38976663
TTAAAATintronicUnknown-0.0088Leblond2019 E
SRSF7     AU039305chr2:
38992514-38992514
GCintergenicDe novo--Yuen2017 G
SRSF7     2-1702-004chr2:
38976121-38976121
GGCintronicDe novo--Yuen2017 G
SRSF7     PN400284chr2:
38976658-38976663
TTAAAATintronicUnknown-0.0088Leblond2019 E
SRSF7     PN400501chr2:
38976658-38976663
TTAAAATintronicUnknown-0.0088Leblond2019 E
SRSF7     2-0305-004chr2:
38976656-38976656
TGintronicDe novo--Yuen2017 G
SRSF7     PN400261chr2:
38976658-38976663
TTAAAATintronicUnknown-0.0088Leblond2019 E
SRSF7     1-0158-012chr2:
38972897-38972897
CCACTAGATAAintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More