or
or
Exact

Results for "NLN"

Variant Events: 20

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
NLN     SP0184825chr5:
65106001-65106001
CGintronicDe novo--Trost2022 G
NLN     3-0703-000chr5:
65121175-65121178
TAAGTUTR3De novo--Trost2022 G
NLN     3-0422-000chr5:
65092560-65092560
CTintronicDe novo--Trost2022 G
NLN     MSSNG00171-003chr5:
65094200-65094200
AATTATintronicDe novo--Trost2022 G
NLN     AU4483301chr5:
65142680-65142680
TCintergenicDe novo--Yuen2017 G
NLN     SP0140723chr5:
65073255-65073255
ACexonicDe novononsynonymous SNVNM_020726c.A452Cp.E151A14.71-Trost2022 G
NLN     2-0045-003chr5:
65152701-65152701
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NLN     SP0143256chr5:
65073256-65073256
ACexonicDe novononsynonymous SNVNM_020726c.A453Cp.E151D13.72-Trost2022 G
NLN     2-1567-004chr5:
65069462-65069462
GAintronicDe novo--Trost2022 G
Yuen2017 G
NLN     1-1011-003chr5:
65047841-65047841
AGintronicDe novo--Trost2022 G
NLN     SP0088006chr5:
65084034-65084034
TCexonicDe novononsynonymous SNVNM_020726c.T1048Cp.F350L4.836-Fu2022 E
Trost2022 G
Zhou2022 GE
NLN     5-5233-003chr5:
65069436-65069436
CTintronicDe novo--Trost2022 G
NLN     7-0080-003chr5:
65149440-65149459
TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCintergenicDe novo--Yuen2017 G
NLN     Shi2013:2chr5:
65088405-65088405
CTexonicInheritednonsynonymous SNVNM_020726c.C1450Tp.P484S28.44.942E-5Shi2013 G
NLN     mAGRE2541chr5:
65073257-65073258
ACAexonicMaternalframeshift deletionNM_020726c.455delCp.T152fs-8.243E-6Cirnigliaro2023 G
NLN     Shi2013:1chr5:
65088405-65088405
CTexonicInheritednonsynonymous SNVNM_020726c.C1450Tp.P484S28.44.942E-5Shi2013 G
NLN     2-1244-003chr5:
65200305-65200305
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
NLN     MSSNG00020-003chr5:
65025097-65025097
AGintronicDe novo--Trost2022 G
NLN     2-0003-003chr5:
65078695-65078695
CTintronicDe novo--Trost2022 G
Yuen2017 G
NLN     iHART2541chr5:
65073257-65073258
ACAexonicMaternalframeshift deletionNM_020726c.455delCp.T152fs-8.243E-6Ruzzo2019 G
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