or
or
Exact

Results for "NDUFS4"

Variant Events: 23

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
NDUFS4     2-1138-003chr5:
53101193-53101193
GAintergenicDe novo--Yuen2017 G
NDUFS4     12793.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
NDUFS4     2-0171-003chr5:
53029257-53029257
CTintergenicDe novo--Yuen2017 G
NDUFS4     3-0458-000Achr5:
53044896-53044896
TAintergenicDe novo--Yuen2017 G
NDUFS4     72-1397chr5:
52899293-52899293
CGexonicInheritednonsynonymous SNVNM_002495c.C110Gp.T37S17.53-Patowary2019 E
NDUFS4     2-1359-003chr5:
53072427-53072427
CTintergenicDe novo--Yuen2017 G
NDUFS4     7-0032-003chr5:
52956275-52956275
TCintronicDe novo--Yuen2017 G
NDUFS4     1-0252-003chr5:
52969243-52969243
CTintronicDe novo--Yuen2017 G
NDUFS4     1-0458-003chr5:
52923385-52923385
TCintronicDe novo--Yuen2017 G
NDUFS4     3-0428-000chr5:
53030272-53030272
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NDUFS4     1-0052-004chr5:
52898936-52898936
AGintronicDe novo--Yuen2017 G
NDUFS4     2-1617-003chr5:
52967887-52967887
AGintronicDe novo--Yuen2017 G
NDUFS4     AU000704chr5:
52976969-52976969
AGintronicDe novo--Yuen2017 G
NDUFS4     3-0458-000chr5:
53044896-53044896
TAintergenicDe novo--Yuen2016 G
NDUFS4     1-0593-003chr5:
52988333-52988333
GAintergenicDe novo--Yuen2017 G
NDUFS4     2-1646-003chr5:
52940996-52940996
AGintronicDe novo--Yuen2017 G
NDUFS4     2-1689-003chr5:
53133501-53133501
CTintergenicDe novo--Yuen2017 G
NDUFS4     5-0030-003chr5:
52963755-52963755
TAintronicDe novo--Yuen2017 G
NDUFS4     AU3730301chr5:
52961686-52961686
CTintronicDe novo--Yuen2017 G
NDUFS4     13515.p1chr5:
52943841-52943841
TAintronicDe novo--Turner2016 G
NDUFS4     1-0387-003chr5:
53095288-53095288
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
NDUFS4     3-0458-000Bchr5:
53044896-53044896
TAintergenicDe novo--Yuen2017 G
NDUFS4     AU3716301chr5:
52940573-52940573
ATintronicDe novo--Yuen2017 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