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Results for "NEMF"

Variant Events: 16

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
NEMF     2-0070-004chr14:
50291708-50291708
CGintronicDe novo--Yuen2017 G
NEMF     SSC02330chr14:
50307512-50307512
CAexonicMosaicnonsynonymous SNVNM_001301732
NM_004713
c.G430T
c.G430T
p.D144Y
p.D144Y
27.4-Lim2017 E
NEMF     217-14208-3350chr14:
50319461-50319461
CTexonicPaternalnonsynonymous SNVNM_001301732
NM_004713
c.G11A
c.G11A
p.R4H
p.R4H
36.0-Stessman2017 T
NEMF     1792-23269chr14:
50296078-50296078
GAexonicInheritedstopgainNM_001301732
NM_004713
c.C1012T
c.C1012T
p.Q338X
p.Q338X
38.0-Callaghan2019 G
NEMF     1-0153-004chr14:
50287675-50287675
CCAintronicDe novo--Yuen2017 G
NEMF     AU1499301chr14:
50312961-50312961
CTexonicMaternalnonsynonymous SNVNM_001301732
NM_004713
c.G254A
c.G254A
p.R85Q
p.R85Q
36.05.769E-5Stessman2017 T
NEMF     211-5300-3chr14:
50251653-50251653
CTexonicUnknownnonsynonymous SNVNM_001301732
NM_004713
c.G3080A
c.G3143A
p.R1027H
p.R1048H
29.24.955E-5Stessman2017 T
NEMF     214-17006-1chr14:
50269285-50269285
CTexonicUnknownnonsynonymous SNVNM_001301732
NM_004713
c.G1918A
c.G1981A
p.E640K
p.E661K
29.8-Stessman2017 T
NEMF     AU038004chr14:
50251830-50251830
CAexonicUnknownnonsynonymous SNVNM_001301732
NM_004713
c.G2990T
c.G3053T
p.G997V
p.G1018V
22.4-Stessman2017 T
NEMF     P9B3Schr14:
50280770-50280770
TCsplicingInheritedsplicing18.62-Stessman2017 T
NEMF     AU2000305chr14:
50280025-50280025
TCintronicDe novo--Yuen2017 G
NEMF     11676.p1chr14:
50307512-50307512
CAexonicDe novo, Mosaicnonsynonymous SNVNM_001301732
NM_004713
c.G430T
c.G430T
p.D144Y
p.D144Y
27.4-Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
NEMF     12705.p1chr14:
50300107-50300107
CAintronicMosaic--Dou2017 E
NEMF     M15110chr14:
50307529-50307529
CTexonicUnknownnonsynonymous SNVNM_001301732
NM_004713
c.G413A
c.G413A
p.R138Q
p.R138Q
35.08.268E-6Guo2018 T
Wang2016 T
NEMF     1-0368-004chr14:
50302164-50302164
GAintronicDe novo--Yuen2017 G
NEMF     AU4228301chr14:
50350308-50350308
GAintergenicDe 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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