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Results for "SPTAN1"

Variant Events: 8

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
SPTAN1     14468.p1chr9:
131386710-131386710
AGexonicDe novononsynonymous SNVNM_001195532
NM_003127
NM_001130438
c.A5861G
c.A5921G
c.A5936G
p.E1954G
p.E1974G
p.E1979G
21.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SPTAN1     G01-GEA-35-HIchr9:
131329241-131329241
CTexonicDe novosynonymous SNVNM_001130438
NM_001195532
NM_003127
c.C222T
c.C222T
c.C222T
p.D74D
p.D74D
p.D74D
--Lim2017 E
Satterstrom2020 E
SPTAN1     iHART2820chr9:
131340396-131340396
CAexonicDe novononsynonymous SNVNM_001130438
NM_001195532
NM_003127
c.C1093A
c.C1093A
c.C1093A
p.R365S
p.R365S
p.R365S
21.1-Ruzzo2019 G
SPTAN1     SSC12057chr9:
131386710-131386710
AGexonicDe novononsynonymous SNVNM_001195532
NM_003127
NM_001130438
c.A5861G
c.A5921G
c.A5936G
p.E1954G
p.E1974G
p.E1979G
21.4-Lim2017 E
SPTAN1     80001102148chr9:
131395574-131395574
CTexonicDe novosynonymous SNVNM_001195532
NM_003127
NM_001130438
c.C7320T
c.C7380T
c.C7395T
p.F2440F
p.F2460F
p.F2465F
-6.61E-5Lim2017 E
Satterstrom2020 E
SPTAN1     SP0028260chr9:
131388760-131388760
CTexonicDe novononsynonymous SNVNM_001195532
NM_003127
NM_001130438
c.C6295T
c.C6355T
c.C6370T
p.R2099C
p.R2119C
p.R2124C
24.2-Feliciano2019 E
SPTAN1     08C74956chr9:
131394916-131394916
TCexonicDe novononsynonymous SNVNM_001195532
NM_003127
NM_001130438
c.T7004C
c.T7064C
c.T7079C
p.L2335P
p.L2355P
p.L2360P
23.3-Satterstrom2020 E
SPTAN1     SP0010081chr9:
131395176-131395176
CTexonicDe novononsynonymous SNVNM_001195532
NM_003127
NM_001130438
c.C7175T
c.C7235T
c.C7250T
p.A2392V
p.A2412V
p.A2417V
35.0-Feliciano2019 E
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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