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Results for "BTN2A1"

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
BTN2A1     iHART2623chr6:
26466318-26466318
TCsplicingPaternalsplicing11.881.647E-5Ruzzo2019 G
BTN2A1     iHART2624chr6:
26466318-26466318
TCsplicingPaternalsplicing11.881.647E-5Ruzzo2019 G
BTN2A1     iHART1307chr6:
26468503-26468504
CTCexonicPaternalframeshift deletionNM_001197233
NM_007049
c.1128delT
c.1311delT
p.P376fs
p.P437fs
-1.0E-4Ruzzo2019 G
BTN2A1     iHART2622chr6:
26466318-26466318
TCsplicingPaternalsplicing11.881.647E-5Ruzzo2019 G
BTN2A1     200675776@1082034283chr6:
26463682-26463682
TCexonicDe novononsynonymous SNVNM_001197233
NM_001197234
NM_007049
NM_078476
c.T458C
c.T641C
c.T641C
c.T641C
p.V153A
p.V214A
p.V214A
p.V214A
9.612-Satterstrom2020 E
BTN2A1     Chen2017:9chr6:
26463682-26463682
TCexonicDe novononsynonymous SNVNM_001197233
NM_001197234
NM_007049
NM_078476
c.T458C
c.T641C
c.T641C
c.T641C
p.V153A
p.V214A
p.V214A
p.V214A
9.612-Chen2017 E
BTN2A1     AU3881302chr6:
26467419-26467421
ACCACintronicDe novo--Yuen2017 G
BTN2A1     G01-GEA-240-HIchr6:
26459819-26459819
CTexonicDe novononsynonymous SNVNM_001197233
NM_001197234
NM_007049
NM_078476
c.C10T
c.C193T
c.C193T
c.C193T
p.R4W
p.R65W
p.R65W
p.R65W
16.52-Satterstrom2020 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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