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Results for "NLRC5"

Variant Events: 14

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
NLRC5     SP0078245chr16:
57111743-57111743
CTintronicDe novo--Fu2022 E
NLRC5     SP0078317chr16:
57067423-57067423
GAintronicDe novo--Fu2022 E
NLRC5     1-0375-003chr16:
57075254-57075254
GAintronicDe novo--Yuen2017 G
NLRC5     2-1094-004chr16:
57070752-57070752
AGintronicDe novo--Yuen2017 G
NLRC5     SP0079472chr16:
57060411-57060411
ATexonicDe novononsynonymous SNVNM_032206c.A1556Tp.E519V15.6-Fu2022 E
NLRC5     SP0003386chr16:
57104571-57104571
GTintronicDe novo-0.001Fu2022 E
NLRC5     Uddin2014:23chr16:
57095444-57095444
GTsplicingDe novosplicing12.94-Uddin2014 E
NLRC5     336-06-106561chr16:
57091998-57091998
CTexonicDe novosynonymous SNVNM_032206c.C3768Tp.G1256G0.422.941E-5Fu2022 E
Satterstrom2020 E
NLRC5     2-1376-003chr16:
57051217-57051217
AGintronicDe novo--Yuen2016 G
Yuen2017 G
NLRC5     2-1437-003chr16:
57123738-57123738
GAintergenicDe novo--Yuen2017 G
NLRC5     1-0539-003chr16:
57087459-57087459
GTintronicDe novo--Yuen2017 G
NLRC5     G01-GEA-311-HIchr16:
57095807-57095807
CTintronicDe novo8.431-Fu2022 E
Satterstrom2020 E
NLRC5     1-0028-003chr16:
57093971-57093971
CTintronicDe novo--Yuen2017 G
NLRC5     AU071203chr16:
57054685-57054685
CTexonicDe novononsynonymous SNVNM_032206c.C61Tp.L21F18.088.244E-6Yuen2017 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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