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Results for "FLII"

Variant Events: 7

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
FLII     SSC02907chr17:
18152174-18152174
CTexonicDe novononsynonymous SNVNM_001256265
NM_001256264
NM_002018
c.G1793A
c.G1925A
c.G1958A
p.G598E
p.G642E
p.G653E
32.0-Lim2017 E
FLII     11297.p1chr17:
18152174-18152174
CTexonicDe novononsynonymous SNVNM_001256265
NM_001256264
NM_002018
c.G1793A
c.G1925A
c.G1958A
p.G598E
p.G642E
p.G653E
32.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
FLII     AU223Achr17:
18151881-18151881
GCexonicDe novononsynonymous SNVNM_001256265
NM_001256264
NM_002018
c.C2008G
c.C2140G
c.C2173G
p.Q670E
p.Q714E
p.Q725E
10.348.356E-6DeRubeis2014 E
Kosmicki2017 E
FLII     SP0026711chr17:
18155412-18155412
CTexonicDe novononsynonymous SNVNM_001256265
NM_001256264
NM_002018
c.G985A
c.G1114A
c.G1147A
p.A329T
p.A372T
p.A383T
6.0828.331E-6Feliciano2019 E
FLII     DEASD_1082_001chr17:
18152007-18152007
CTexonicDe novononsynonymous SNVNM_001256265
NM_001256264
NM_002018
c.G1882A
c.G2014A
c.G2047A
p.E628K
p.E672K
p.E683K
36.0-Satterstrom2020 E
FLII     NDAR_INVVV360YH4_wes1chr17:
18157933-18157933
GAexonicDe novosynonymous SNVNM_001256264
NM_002018
c.C444T
c.C477T
p.S148S
p.S159S
-1.664E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FLII     Cukier2014:7590chr17:
18148534-18148534
CTexonicUnknownnonsynonymous SNVNM_001256265
NM_001256264
NM_002018
c.G3563A
c.G3695A
c.G3728A
p.R1188H
p.R1232H
p.R1243H
24.20.0175Cukier2014 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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