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Results for "SPHKAP"

Variant Events: 44

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
SPHKAP     2-0299-005chr2:
229750999-229750999
GAintergenicDe novo--Yuen2017 G
SPHKAP     AU072504chr2:
229111631-229111631
GAintergenicDe novo--Yuen2017 G
SPHKAP     AU2427301chr2:
229614520-229614520
CTintergenicDe novo--Yuen2017 G
SPHKAP     5-0046-003chr2:
229843957-229843957
CTintergenicDe novo--Yuen2017 G
SPHKAP     5-0116-003chr2:
229629001-229629001
AGintergenicDe novo--Yuen2017 G
SPHKAP     AU0780302chr2:
229692273-229692273
CGintergenicDe novo--Yuen2017 G
SPHKAP     1-0344-003chr2:
229438120-229438120
TCintergenicDe novo--Yuen2017 G
SPHKAP     12175.p1chr2:
229044769-229044769
CGintronicDe novo--Turner2016 G
SPHKAP     11456.p1chr2:
229210910-229210910
GTintergenicDe novo--Turner2016 G
SPHKAP     AU3125301chr2:
229369300-229369300
CTintergenicDe novo--Yuen2017 G
SPHKAP     7-0191-003chr2:
228951660-228951660
CAintronicDe novo--Yuen2017 G
SPHKAP     1-0567-003chr2:
229859259-229859259
CAintergenicDe novo--Yuen2017 G
SPHKAP     7-0191-003chr2:
228983651-228983651
ACintronicDe novo--Yuen2017 G
SPHKAP     AU3955303chr2:
229289286-229289286
GAintergenicDe novo--Yuen2017 G
SPHKAP     AU4246304chr2:
228941090-228941090
GCintronicDe novo--Yuen2017 G
SPHKAP     1-0484-003chr2:
228999177-228999177
CGintronicDe novo--Yuen2017 G
SPHKAP     11456.p1chr2:
229210912-229210912
GTintergenicDe novo--Turner2016 G
SPHKAP     1-0568-003chr2:
229191967-229191967
ACintergenicDe novo--Yuen2017 G
SPHKAP     2-0295-004chr2:
228882214-228882214
TAexonicDe novononsynonymous SNVNM_001142644
NM_030623
c.A3356T
c.A3356T
p.Q1119L
p.Q1119L
21.4-Yuen2015 G
Yuen2017 G
SPHKAP     AU073003chr2:
229675975-229675975
AGintergenicDe novo--Yuen2017 G
SPHKAP     2-0270-004chr2:
229478395-229478395
GAintergenicDe novo--Yuen2017 G
SPHKAP     AU2427302chr2:
229614520-229614520
CTintergenicDe novo--Yuen2017 G
SPHKAP     1-0191-003chr2:
229411416-229411416
GAintergenicDe novo--Yuen2017 G
SPHKAP     1-0141-003chr2:
229415681-229415681
TCintergenicDe novo--Yuen2017 G
SPHKAP     AU2863302chr2:
229406072-229406072
CAintergenicDe novo--Yuen2017 G
SPHKAP     AU3368302chr2:
229644735-229644735
AGintergenicDe novo--Yuen2017 G
SPHKAP     AU3811301chr2:
228903253-228903253
CTintronicDe novo--Yuen2017 G
SPHKAP     AU1933302chr2:
229253305-229253305
ATintergenicDe novo--Yuen2017 G
SPHKAP     3-0442-000chr2:
229350452-229350452
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
SPHKAP     2-1291-003chr2:
229837542-229837542
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SPHKAP     1-0324-003chr2:
228964336-228964336
CTintronicDe novo--Yuen2017 G
SPHKAP     2-1223-003chr2:
229400659-229400659
CGintergenicDe novo--Yuen2017 G
SPHKAP     AU076704chr2:
229028424-229028424
TCintronicDe novo--Yuen2017 G
SPHKAP     11981.p1chr2:
228846400-228846400
GTUTR3De novo--Satterstrom2020 E
SPHKAP     7-0161-003chr2:
229251634-229251634
AGintergenicDe novo--Yuen2017 G
SPHKAP     AU003403chr2:
229529835-229529835
GTintergenicDe novo--Yuen2017 G
SPHKAP     AU2792302chr2:
229741602-229741602
TAintergenicDe novo--Yuen2017 G
SPHKAP     1-0871-003chr2:
228911747-228911747
TCintronicDe novo--Yuen2017 G
SPHKAP     AU2075302chr2:
229614747-229614747
CGintergenicDe novo--Yuen2017 G
SPHKAP     5-0033-004chr2:
229720707-229720715
CCATAGCCACintergenicDe novo--Yuen2017 G
SPHKAP     2-0270-003chr2:
229868734-229868734
GAintergenicDe novo--Yuen2017 G
SPHKAP     AU3632301chr2:
229621054-229621054
TCintergenicDe novo--Yuen2017 G
SPHKAP     AU046707chr2:
229428145-229428145
TCintergenicDe novo--Yuen2017 G
SPHKAP     AU2793301chr2:
229797755-229797755
TCintergenicDe 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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