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Results for "HDLBP"

Variant Events: 5

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
HDLBP     08C75916chr2:
242187736-242187736
TAexonicDe novononsynonymous SNVNM_001243900
NM_005336
NM_203346
c.A1441T
c.A1540T
c.A1540T
p.I481F
p.I514F
p.I514F
32.0-Satterstrom2020 E
HDLBP     11610.p1chr2:
242186202-242186202
CAexonicDe novononsynonymous SNVNM_001243900
NM_005336
NM_203346
c.G1816T
c.G1915T
c.G1915T
p.A606S
p.A639S
p.A639S
20.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
HDLBP     10C117906chr2:
242196047-242196047
GAexonicDe novononsynonymous SNVNM_005336
NM_203346
NM_001243900
c.C625T
c.C625T
c.C733T
p.R209C
p.R209C
p.R245C
16.88.236E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
HDLBP     11028.p1chr2:
242187734-242187734
AGexonicDe novosynonymous SNVNM_001243900
NM_005336
NM_203346
c.T1443C
c.T1542C
c.T1542C
p.I481I
p.I514I
p.I514I
12.07-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
HDLBP     1-0541-004chr2:
242223773-242223773
TCintronicDe 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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