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Results for "SP100"

Variant Events: 36

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
SP100     2-1188-003chr2:
231365825-231365825
CTintronicDe novo--Trost2022 G
Yuen2017 G
SP100     AU2156303chr2:
231501928-231501928
CTintergenicDe novo--Yuen2017 G
SP100     2-1168-003chr2:
231302832-231302832
AATintronicDe novo--Yuen2016 G
SP100     AU4223302chr2:
231542189-231542190
GAGintergenicDe novo--Yuen2017 G
SP100     7-0321-003Achr2:
231351054-231351054
AGintronicDe novo--Trost2022 G
SP100     1-0339-003chr2:
231551350-231551350
AAACintergenicDe novo--Yuen2017 G
SP100     5-5217-003chr2:
231372225-231372225
CTintronicDe novo--Trost2022 G
SP100     3-0007-000chr2:
231290923-231290926
TTTGTintronicDe novo--Trost2022 G
SP100     68743chr2:
231334508-231334508
GAintronicDe novo--Trost2022 G
SP100     1-0565-003chr2:
231306507-231306507
ATintronicDe novo--Trost2022 G
Yuen2017 G
SP100     7-0255-003chr2:
231402481-231402481
CTintronicDe novo--Trost2022 G
Yuen2017 G
SP100     5-0095-003chr2:
231554434-231554434
AGintergenicDe novo--Yuen2017 G
SP100     2-1692-003chr2:
231384613-231384613
TTAAintronicDe novo--Trost2022 G
SP100     AU2287301chr2:
231409308-231409308
TGUTR3De novo--Trost2022 G
SP100     MSSNG00073-003chr2:
231378516-231378516
AGintronicDe novo--Trost2022 G
SP100     AU2975302chr2:
231502323-231502323
GAintergenicDe novo--Yuen2017 G
SP100     13064.p1chr2:
231334508-231334508
GAintronicDe novo--Satterstrom2020 E
SP100     04C35327chr2:
231331067-231331067
GCexonicDe novononsynonymous SNVNM_001206703
NM_001080391
NM_001206701
NM_001206702
NM_003113
NM_001206704
c.G1118C
c.G1193C
c.G1193C
c.G1193C
c.G1193C
c.G1088C
p.R373T
p.R398T
p.R398T
p.R398T
p.R398T
p.R363T
5.437-Fu2022 E
SP100     2-1692-003chr2:
231384610-231384610
TTGGintronicDe novo--Trost2022 G
SP100     1-0273-004chr2:
231308094-231308095
AGAintronicDe novo--Trost2022 G
Yuen2017 G
SP100     AU2100302chr2:
231302571-231302571
GAintronicDe novo--Trost2022 G
Yuen2017 G
SP100     7-0071-003chr2:
231379852-231379852
TCexonicnonsynonymous SNVNM_003113c.T2137Cp.S713P9.881-Zhou2022 GE
SP100     Cukier2014:37425chr2:
231326031-231326031
GAexonicUnknownnonsynonymous SNVNM_001206703
NM_001080391
NM_001206701
NM_001206702
NM_003113
NM_001206704
c.G800A
c.G875A
c.G875A
c.G875A
c.G875A
c.G770A
p.R267Q
p.R292Q
p.R292Q
p.R292Q
p.R292Q
p.R257Q
3.5480.004Cukier2014 E
SP100     AU3605303chr2:
231517894-231517894
TCintergenicDe novo--Yuen2017 G
SP100     2-1459-003chr2:
231324939-231324939
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SP100     1-0184-003chr2:
231486161-231486161
TCintergenicDe novo--Yuen2017 G
SP100     13076.p1chr2:
231478278-231478278
GAintergenicDe novo--Werling2018 G
SP100     2-0070-004chr2:
231405783-231405783
GCintronicDe novo--Trost2022 G
Yuen2017 G
SP100     2-1266-003chr2:
231315682-231315682
TCintronicDe novo--Yuen2017 G
SP100     mAGRE5042chr2:
231313823-231313823
CTexonicMaternalstopgainNM_001206703
NM_001080391
NM_001206701
NM_001206702
NM_003113
NM_001206704
c.C469T
c.C544T
c.C544T
c.C544T
c.C544T
c.C439T
p.R157X
p.R182X
p.R182X
p.R182X
p.R182X
p.R147X
15.87-Cirnigliaro2023 G
SP100     mAGRE4739chr2:
231307677-231307677
GAexonicDe novononsynonymous SNVNM_001206703
NM_001080391
NM_001206701
NM_001206702
NM_003113
NM_001206704
c.G58A
c.G133A
c.G133A
c.G133A
c.G133A
c.G28A
p.D20N
p.D45N
p.D45N
p.D45N
p.D45N
p.D10N
16.54-Cirnigliaro2023 G
SP100     1-0043-003chr2:
231537348-231537348
GCintergenicDe novo--Yuen2017 G
SP100     2-0285-004chr2:
231506052-231506052
CAintergenicDe novo--Yuen2017 G
SP100     SP0012767chr2:
231404102-231404102
GCintronicDe novo--Fu2022 E
Zhou2022 GE
SP100     SP0004092chr2:
231307824-231307824
GCintronicDe novo--Fu2022 E
Trost2022 G
SP100     7-0251-003chr2:
231300733-231300733
TAintronicDe novo--Trost2022 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 notesView
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