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Results for "RBPJL"

Variant Events: 11

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
RBPJL     AU002903chr20:
43948432-43948432
TCintergenicDe novo--Yuen2017 G
RBPJL     iHART1050chr20:
43942673-43942673
AGsplicingMaternalsplicing8.612.485E-5Ruzzo2019 G
RBPJL     iHART2480chr20:
43942215-43942215
CTexonicPaternalstopgainNM_001281448
NM_001281449
NM_014276
c.C727T
c.C727T
c.C727T
p.R243X
p.R243X
p.R243X
34.03.0E-4Ruzzo2019 G
RBPJL     6243chr20:
43942709-43942709
GAexonicDe novosynonymous SNVNM_001281448
NM_001281449
NM_014276
c.G792A
c.G792A
c.G792A
p.P264P
p.P264P
p.P264P
-3.304E-5Fu2022 E
RBPJL     mAGRE4663chr20:
43942215-43942215
CTexonicPaternalstopgainNM_001281448
NM_001281449
NM_014276
c.C727T
c.C727T
c.C727T
p.R243X
p.R243X
p.R243X
34.03.0E-4Cirnigliaro2023 G
RBPJL     AU1795302chr20:
43949283-43949283
GTintergenicDe novo--Yuen2017 G
RBPJL     mAGRE4662chr20:
43942215-43942215
CTexonicPaternalstopgainNM_001281448
NM_001281449
NM_014276
c.C727T
c.C727T
c.C727T
p.R243X
p.R243X
p.R243X
34.03.0E-4Cirnigliaro2023 G
RBPJL     SMHC00820s000chr20:
43945378-43945378
GCexonicDe novononsynonymous SNVNM_001281448
NM_001281449
NM_014276
c.G1343C
c.G1330C
c.G1333C
p.R448P
p.D444H
p.D445H
32.0-Yuan2023 E
RBPJL     mAGRE2480chr20:
43942215-43942215
CTexonicPaternalstopgainNM_001281448
NM_001281449
NM_014276
c.C727T
c.C727T
c.C727T
p.R243X
p.R243X
p.R243X
34.03.0E-4Cirnigliaro2023 G
RBPJL     Wang2023:820chr20:
43945378-43945378
GCexonicDe novononsynonymous SNVNM_001281448
NM_001281449
NM_014276
c.G1343C
c.G1330C
c.G1333C
p.R448P
p.D444H
p.D445H
32.0-Wang2023 E
RBPJL     13914.p1chr20:
43942709-43942709
GAexonicDe novosynonymous SNVNM_001281448
NM_001281449
NM_014276
c.G792A
c.G792A
c.G792A
p.P264P
p.P264P
p.P264P
-3.304E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
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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