or
or
Exact

Results for "NDUFS2"

Variant Events: 5

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
NDUFS2     PN400282chr1:
161183191-161183191
CGexonicUnknownnonsynonymous SNVNM_001166159
NM_004550
c.C1138G
c.C1138G
p.H380D
p.H380D
27.56.0E-4Leblond2019 E
NDUFS2     PN400503chr1:
161183191-161183191
CGexonicUnknownnonsynonymous SNVNM_001166159
NM_004550
c.C1138G
c.C1138G
p.H380D
p.H380D
27.56.0E-4Leblond2019 E
NDUFS2     PN400249chr1:
161183191-161183191
CGexonicUnknownnonsynonymous SNVNM_001166159
NM_004550
c.C1138G
c.C1138G
p.H380D
p.H380D
27.56.0E-4Leblond2019 E
NDUFS2     SP0028591chr1:
161184094-161184094
TTGTGTGTGUTR3De novo--Fu2022 E
NDUFS2     111311chr1:
161179959-161179959
GAexonicnonsynonymous SNVNM_001166159
NM_004550
c.G761A
c.G761A
p.R254Q
p.R254Q
29.01.65E-5Woodbury-Smith2022 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