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Results for "SPRED2"

Variant Events: 56

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
SPRED2     2-0223-004chr2:
65869688-65869688
GAintergenicDe novo--Yuen2017 G
SPRED2     AU3695303chr2:
66419292-66419292
GAintergenicDe novo--Yuen2017 G
SPRED2     2-0215-003chr2:
66197102-66197104
AAGAintergenicDe novo--Yuen2017 G
SPRED2     AU1355301chr2:
66571697-66571697
GAintergenicDe novo--Yuen2017 G
SPRED2     1-0215-006chr2:
66255423-66255423
CTintergenicDe novo--Yuen2017 G
SPRED2     2-0098-003chr2:
65807011-65807011
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
SPRED2     1-0043-004chr2:
65993340-65993340
TAintergenicDe novo--Yuen2017 G
SPRED2     1-0248-003chr2:
66057464-66057464
GAintergenicDe novo--Yuen2017 G
SPRED2     AU2433302chr2:
66279068-66279068
GTintergenicDe novo--Yuen2017 G
SPRED2     AU3881302chr2:
66410826-66410826
AGintergenicDe novo--Yuen2017 G
SPRED2     1-0320-004chr2:
65793081-65793081
CGintergenicDe novo--Yuen2017 G
SPRED2     1-0394-003chr2:
66266047-66266047
GAintergenicDe novo--Yuen2017 G
SPRED2     5-0042-003chr2:
65994053-65994053
CAintergenicDe novo--Yuen2017 G
SPRED2     AU1404302chr2:
66407145-66407145
AGintergenicDe novo--Yuen2017 G
SPRED2     2-1127-003chr2:
66041800-66041800
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
SPRED2     1-0347-003chr2:
65834379-65834386
ATGGTAAGAintergenicDe novo--Yuen2017 G
SPRED2     2-1127-003chr2:
66374890-66374890
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
SPRED2     AU2100302chr2:
65920914-65920914
TAintergenicDe novo--Yuen2017 G
SPRED2     1-0563-003chr2:
65838472-65838472
GAintergenicDe novo--Yuen2017 G
SPRED2     A26chr2:
66202665-66202666
TGTintergenicDe novo--Wu2018 G
SPRED2     1-0570-003chr2:
66115152-66115154
GAAGAAAintergenicDe novo--Yuen2017 G
SPRED2     1-0065-005chr2:
65678689-65678689
TGintergenicDe novo--Yuen2017 G
SPRED2     2-0142-003chr2:
66452303-66452303
TAintergenicDe novo--Yuen2017 G
SPRED2     11780.p1chr2:
66127761-66127762
CTTGintergenicMaternal--Wilfert2021 G
SPRED2     AU3190305chr2:
66212974-66212974
GAintergenicDe novo--Yuen2017 G
SPRED2     1-0994-003chr2:
65713035-65713035
CTintergenicDe novo--Yuen2017 G
SPRED2     7-0175-003chr2:
65870615-65870615
TAintergenicDe novo--Yuen2017 G
SPRED2     AU4463303chr2:
65879590-65879590
GAintergenicDe novo--Yuen2017 G
SPRED2     1-0912-003chr2:
65592880-65592880
TAintronicDe novo--Yuen2017 G
SPRED2     AU2951303chr2:
66155875-66155875
CGintergenicDe novo--Yuen2017 G
SPRED2     1-0756-003chr2:
65888330-65888330
AGintergenicDe novo--Yuen2017 G
SPRED2     AU3903301chr2:
66021325-66021325
CTintergenicDe novo--Yuen2017 G
SPRED2     AU3839303chr2:
65694205-65694205
CTintergenicDe novo--Yuen2017 G
SPRED2     2-0286-003chr2:
66490116-66490116
GAintergenicDe novo--Yuen2017 G
SPRED2     2-1382-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
SPRED2     AU2951302chr2:
66155875-66155875
CGintergenicDe novo--Yuen2017 G
SPRED2     2-1408-003chr2:
65733234-65733234
AATintergenicDe novo--Yuen2017 G
SPRED2     2-1261-003chr2:
66032910-66032910
CCTAintergenicDe novo--Yuen2017 G
SPRED2     AU3053302chr2:
65765117-65765117
AGintergenicDe novo--Yuen2017 G
SPRED2     AU4308302chr2:
65982343-65982343
TGintergenicDe novo--Yuen2017 G
SPRED2     1-0191-003chr2:
66212867-66212867
GAintergenicDe novo--Yuen2017 G
SPRED2     1-0526-003chr2:
66323078-66323078
CTintergenicDe novo--Yuen2017 G
SPRED2     AU066818chr2:
66472230-66472230
CAintergenicDe novo--Yuen2017 G
SPRED2     AU2793302chr2:
66537492-66537492
GAintergenicDe novo--Yuen2017 G
SPRED2     09C99529chr2:
65561787-65561787
GAexonicDe novostopgainNM_001128210
NM_181784
c.C316T
c.C325T
p.R106X
p.R109X
26.52.471E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SPRED2     12498.p1chr2:
65870437-65870437
GTintergenicDe novo--Turner2016 G
SPRED2     12568.p1chr2:
66072939-66072939
GAintergenicDe novo--Turner2016 G
SPRED2     1-0467-005chr2:
65820620-65820620
CAintergenicDe novo--Yuen2017 G
SPRED2     13515.p1chr2:
65775493-65775493
AGintergenicDe novo--Turner2016 G
SPRED2     12498.p1chr2:
65858858-65858858
CGintergenicDe novo--Turner2016 G
SPRED2     12493.p1chr2:
66320072-66320072
AGintergenicDe novo--Turner2016 G
SPRED2     AU051504chr2:
66271461-66271461
TCintergenicDe novo--Yuen2017 G
SPRED2     AU031403chr2:
65827624-65827625
GCGintergenicDe novo--Yuen2017 G
SPRED2     AU076509chr2:
65809427-65809427
GTintergenicDe novo--Yuen2017 G
SPRED2     1-0567-003chr2:
66198493-66198496
ACCTAintergenicDe novo--Yuen2017 G
SPRED2     AU024607chr2:
65989467-65989467
CTintergenicDe 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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