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Results for "NFKB1"

Variant Events: 10

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
NFKB1     1-0458-005chr4:
103511572-103511573
CACintronicDe novo--Yuen2017 G
NFKB1     ASC_CA_60_Achr4:
103534531-103534531
CTintronicDe novo--Satterstrom2020 E
NFKB1     1-0261-004chr4:
103451413-103451414
CACintronicDe novo--Yuen2017 G
NFKB1     Kim2020:B25chr4:
103528408-103528408
GAexonicDe novononsynonymous SNVNM_001165412
NM_003998
c.G2053A
c.G2056A
p.G685R
p.G686R
24.7-Kim2020 E
NFKB1     1-0278-003chr4:
103464839-103464839
TCintronicDe novo--Yuen2016 G
NFKB1     1-0469-005chr4:
103492984-103492984
CCAGintronicDe novo--Yuen2017 G
NFKB1     3-0307-000chr4:
103542603-103542603
GAintergenicDe novo--Yuen2017 G
NFKB1     AU1668302chr4:
103452735-103452735
TAintronicDe novo--Yuen2017 G
NFKB1     1000277666704035-Cchr4:
103528267-103528267
GAintronicDe novo--Fu2022 E
NFKB1     2-1521-003chr4:
103448617-103448617
GAintronicDe novo--Yuen2017 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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