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Results for "TSPAN17"

Variant Events: 9

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
TSPAN17     1-0555-003chr5:
176087756-176087759
CAGGCintergenicDe novo--Yuen2017 G
TSPAN17     11291.p1chr5:
176078840-176078840
CAexonicDe novostopgainNM_001006616
NM_012171
NM_130465
c.C224A
c.C224A
c.C224A
p.S75X
p.S75X
p.S75X
37.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Willsey2013 E
TSPAN17     11494.p1chr5:
176074644-176074644
GTexonicMaternalstopgainNM_001006616
NM_012171
NM_130465
c.G28T
c.G28T
c.G28T
p.E10X
p.E10X
p.E10X
39.02.126E-5O’Roak2012a T
TSPAN17     AU015903chr5:
176095915-176095915
TAintergenicDe novo--Yuen2017 G
TSPAN17     7-0143-003chr5:
176146765-176146765
TCintergenicDe novo--Yuen2017 G
TSPAN17     AU036203chr5:
176163068-176163068
CTintergenicDe novo--Yuen2017 G
TSPAN17     Li2017:19636chr5:
176083926-176083926
GAsplicing;exonicUnknownnonsynonymous SNVNM_012171
NM_130465
c.G787A
c.G778A
p.V263M
p.V260M
20.9-Li2017 T
TSPAN17     AU2123302chr5:
176112222-176112222
ATintergenicDe novo--Yuen2017 G
TSPAN17     AU3777302chr5:
176151043-176151043
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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