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Results for "SMAP2"

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
SMAP2     Lim2017:70332chr1:
40875459-40875459
TAexonicDe novostopgainNM_001198978
NM_001198979
NM_001198980
NM_022733
c.T264A
c.T339A
c.T114A
c.T354A
p.Y88X
p.Y113X
p.Y38X
p.Y118X
40.0-Lim2017 E
SMAP2     1-0150-004chr1:
40869802-40869802
AGintronicDe novo--Yuen2017 G
SMAP2     2-1231-003chr1:
40868173-40868173
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SMAP2     1-0300-004chr1:
40897511-40897513
GAAGintergenicDe novo--Yuen2017 G
SMAP2     2-1337-003chr1:
40895647-40895647
GAintergenicDe novo--Yuen2017 G
SMAP2     1-0232-004chr1:
40896937-40896937
GTintergenicDe novo--Yuen2017 G
SMAP2     13190.p1chr1:
40875459-40875459
TAexonicDe novostopgainNM_001198978
NM_001198979
NM_001198980
NM_022733
c.T264A
c.T339A
c.T114A
c.T354A
p.Y88X
p.Y113X
p.Y38X
p.Y118X
40.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
SMAP2     AU026412chr1:
40913197-40913197
GTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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