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Results for "THNSL2"

Variant Events: 17

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
THNSL2     AU056804chr2:
88715580-88715580
GCintergenicDe novo--Yuen2017 G
THNSL2     AU2029303chr2:
88595923-88595923
ACintergenicDe novo--Yuen2017 G
THNSL2     1-0259-005chr2:
88600774-88600774
AGintergenicDe novo--Yuen2017 G
THNSL2     7-0273-003chr2:
88657628-88657628
AGintergenicDe novo--Yuen2017 G
THNSL2     AU2029302chr2:
88595923-88595923
ACintergenicDe novo--Yuen2017 G
THNSL2     2-1105-003chr2:
88692009-88692009
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
THNSL2     2-1409-003chr2:
88579410-88579410
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
THNSL2     AU066404chr2:
88704010-88704015
GAAAAAGAintergenicDe novo--Yuen2017 G
THNSL2     11206.p1chr2:
88482261-88482261
CTexonicDe novosynonymous SNVNM_001244678
NM_018271
NM_001244676
c.C372T
c.C846T
c.C846T
p.V124V
p.V282V
p.V282V
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
THNSL2     1-0494-003chr2:
88553251-88553251
GAintergenicDe novo--Yuen2017 G
THNSL2     1-0494-003Achr2:
88553251-88553251
GAintergenicDe novo--Yuen2017 G
THNSL2     AU2787302chr2:
88501407-88501407
ATintergenicDe novo--Yuen2017 G
THNSL2     1-0126-003chr2:
88541128-88541129
CACintergenicDe novo--Yuen2017 G
THNSL2     2-1455-003chr2:
88642118-88642118
ACintergenicDe novo--Yuen2017 G
THNSL2     7-0175-003chr2:
88566151-88566151
GAintergenicDe novo--Yuen2017 G
THNSL2     2-0126-004chr2:
88705353-88705353
AACintergenicDe novo--Yuen2017 G
THNSL2     AU2787302chr2:
88501405-88501405
ACintergenicDe 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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