or
or
Exact

Results for "LUZP1"

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
LUZP1     SP0067274chr1:
23417972-23417972
CTexonicDe novononsynonymous SNVNM_001142546
NM_033631
c.G2783A
c.G2783A
p.R928Q
p.R928Q
14.793.0E-4Fu2022 E
Zhou2022 GE
LUZP1     13537.p1chr1:
23419111-23419111
GAexonicDe novosynonymous SNVNM_001142546
NM_033631
c.C1644T
c.C1644T
p.N548N
p.N548N
-3.295E-5Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
LUZP1     SP0064859chr1:
23418504-23418504
GAexonicDe novononsynonymous SNVNM_001142546
NM_033631
c.C2251T
c.C2251T
p.R751W
p.R751W
17.737.423E-5Fu2022 E
Trost2022 G
Zhou2022 GE
LUZP1     MSSNG00064-003chr1:
23492015-23492015
AGintronicDe novo--Trost2022 G
LUZP1     MSSNG00355-004chr1:
23444337-23444337
CTintronicDe novo--Trost2022 G
LUZP1     AU072004chr1:
23479478-23479478
TGintronicDe novo--Trost2022 G
Yuen2017 G
LUZP1     SSC08711chr1:
23419111-23419111
GAexonicDe novosynonymous SNVNM_001142546
NM_033631
c.C1644T
c.C1644T
p.N548N
p.N548N
-3.295E-5Fu2022 E
Lim2017 E
Trost2022 G
LUZP1     SMHC01282s000chr1:
23419960-23419960
CAexonicDe novononsynonymous SNVNM_001142546
NM_033631
c.G795T
c.G795T
p.K265N
p.K265N
15.578.239E-6Yuan2023 E
LUZP1     12498.p1chr1:
23473547-23473547
GAintronicDe novo--Turner2016 G
LUZP1     7-0130-003chr1:
23464368-23464370
CTTCintronicDe novo--Trost2022 G
Yuen2017 G
LUZP1     Costa2023:P32-1chr1:
23419553-23419553
CTexonicDe novononsynonymous SNVNM_001142546
NM_033631
c.G1202A
c.G1202A
p.R401Q
p.R401Q
18.911.648E-5Costa2023 E
Source Variant Information

, -

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
More