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Results for "SPP2"

Variant Events: 32

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
SPP2     AU4468301chr2:
235149575-235149575
CAintergenicDe novo--Yuen2017 G
SPP2     2-1166-003chr2:
235038918-235038918
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
SPP2     2-0295-004chr2:
235041476-235041476
AGintergenicDe novo--Yuen2017 G
SPP2     2-1507-003chr2:
235143089-235143089
CTintergenicDe novo--Yuen2017 G
SPP2     3-0018-000chr2:
235212458-235212458
GAintergenicDe novo--Yuen2017 G
SPP2     220-9967-201chr2:
234969089-234969090
CCCexonicInheritedframeshift deletionNM_006944c.411delCp.S137fs--Stessman2017 T
SPP2     AU3761301chr2:
235254156-235254156
TCintergenicDe novo--Yuen2017 G
SPP2     2-1594-003chr2:
235236505-235236506
CACAAintergenicDe novo--Yuen2017 G
SPP2     AU3861302chr2:
235111233-235111233
AGintergenicDe novo--Yuen2017 G
SPP2     AU0636303chr2:
235229104-235229104
AGintergenicDe novo--Yuen2017 G
SPP2     AU3610302chr2:
235236650-235236650
CTintergenicDe novo--Yuen2017 G
SPP2     1-0918-003chr2:
235182565-235182565
GTintergenicDe novo--Yuen2017 G
SPP2     AU026412chr2:
234965737-234965737
GTintronicDe novo--Yuen2017 G
SPP2     1-1000-003chr2:
235004748-235004748
AGintergenicDe novo--Yuen2017 G
SPP2     5-0087-003chr2:
235089997-235089997
TAintergenicDe novo--Yuen2017 G
SPP2     AU050704chr2:
235222557-235222557
TCintergenicDe novo--Yuen2017 G
SPP2     12950.p1chr2:
234978538-234978538
TAintronicMosaic--Dou2017 E
SPP2     5112_201_childchr2:
234969088-234969089
TCTexonicDe novoframeshift deletionNM_006944c.410delCp.S137fs--Neale2012 E
Willsey2013 E
SPP2     1-0320-004chr2:
235037793-235037793
CCTTTCTTTCCTTTCTTintergenicDe novo--Yuen2017 G
SPP2     AU030104chr2:
235131336-235131351
AAAAAAAAAAAAAACAAAintergenicDe novo--Yuen2017 G
SPP2     1-0441-003chr2:
235044852-235044852
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SPP2     A18chr2:
235207973-235207973
GTintergenicDe novo--Wu2018 G
SPP2     AU003405chr2:
235093195-235093195
GCintergenicDe novo--Yuen2017 G
SPP2     AU028305chr2:
235001862-235001862
GAintergenicDe novo--Yuen2017 G
SPP2     AU2129301chr2:
235285553-235285553
GAintergenicDe novo--Yuen2017 G
SPP2     10C112342chr2:
234969088-234969089
TCTexonicDe novoframeshift deletionNM_006944c.410delCp.S137fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
SPP2     2-0289-004chr2:
235332007-235332007
GTintergenicDe novo--Yuen2017 G
SPP2     AU2975301chr2:
235179187-235179187
CAintergenicDe novo--Yuen2017 G
SPP2     2-0033-003chr2:
235384446-235384446
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SPP2     AU047704chr2:
235119187-235119187
GTintergenicDe novo--Yuen2017 G
SPP2     M30880chr2:
234959661-234959663
CAGCexonicPaternalframeshift deletionNM_006944c.133_134delp.S45fs-8.25E-6Guo2018 T
SPP2     2-0319-004chr2:
235382994-235382995
CTCintergenicDe 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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