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Results for "SP140"

Variant Events: 16

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
SP140     MSSNG00098-003chr2:
231174711-231174711
GAexonicDe novononsynonymous SNVNM_001278453
NM_001278452
NM_001278451
NM_007237
c.G1789A
c.G1951A
c.G2050A
c.G2131A
p.V597I
p.V651I
p.V684I
p.V711I
11.49-Trost2022 G
Zhou2022 GE
SP140     2-1336-003chr2:
231097201-231097201
GGCintronicDe novo--Trost2022 G
SP140     mAGRE4291chr2:
231118030-231118030
GAsplicingPaternalsplicing0.4551.661E-5Cirnigliaro2023 G
SP140     2-1294-003chr2:
231132541-231132541
AGintronicDe novo--Trost2022 G
SP140     2-1237-003chr2:
231139449-231139449
AGintronicDe novo--Trost2022 G
Yuen2017 G
SP140     1-0022-003chr2:
231102268-231102268
ATintronicDe novo--Yuen2016 G
SP140     11382.p1chr2:
231103053-231103053
GTexonicMosaicnonsynonymous SNVNM_001005176
NM_001278451
NM_001278452
NM_001278453
NM_007237
c.G363T
c.G363T
c.G363T
c.G363T
c.G363T
p.M121I
p.M121I
p.M121I
p.M121I
p.M121I
9.291-Krupp2017 E
SP140     A26chr2:
231092804-231092804
CTintronicDe novo--Wu2018 G
SP140     MSSNG00350-003chr2:
231170265-231170265
TAintronicDe novo--Trost2022 G
SP140     7-0465-003chr2:
231148689-231148689
CTintronicDe novo--Trost2022 G
SP140     3-0772-000chr2:
231162791-231162791
CTintronicDe novo--Trost2022 G
SP140     mAGRE4292chr2:
231118030-231118030
GAsplicingPaternalsplicing0.4551.661E-5Cirnigliaro2023 G
SP140     1-0022-004chr2:
231102268-231102268
ATintronicDe novo--Trost2022 G
Yuen2017 G
SP140     SP0136604chr2:
231176379-231176379
ATintronicDe novo--Fu2022 E
SP140     SP0069884chr2:
231120271-231120271
TGintronicDe novo--Fu2022 E
SP140     08C72821chr2:
231112781-231112781
GAsplicingDe novosplicing3.112-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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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