Variant Results

or

or

Results for "NEMF"

Variant Events: 19

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

2-0070-004

chr14:
50291708-50291708

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NEMF

REACH000696

chr14:
50320806-50320806

T

C

intergenic

De novo

-

-

Trost2022 G

NEMF

SSC02330

chr14:
50307512-50307512

C

A

exonic

Mosaic

nonsynonymous SNV

NM_001301732
NM_004713

c.G430T
c.G430T

p.D144Y
p.D144Y

27.4

-

Lim2017 E

NEMF

REACH000701

chr14:
50287679-50287679

A

C

intronic

De novo

-

-

Trost2022 G

NEMF

217-14208-3350

chr14:
50319461-50319461

C

T

exonic

Paternal

nonsynonymous SNV

NM_001301732
NM_004713

c.G11A
c.G11A

p.R4H
p.R4H

36.0

-

Stessman2017 T

NEMF

1792-23269

chr14:
50296078-50296078

G

A

exonic

Inherited

stopgain

NM_001301732
NM_004713

c.C1012T
c.C1012T

p.Q338X
p.Q338X

38.0

-

Callaghan2019 G

NEMF

1-0153-004

chr14:
50287675-50287675

C

CA

intronic

De novo

-

-

Yuen2017 G

NEMF

AU1499301

chr14:
50312961-50312961

C

T

exonic

Maternal

nonsynonymous SNV

NM_001301732
NM_004713

c.G254A
c.G254A

p.R85Q
p.R85Q

36.0

Stessman2017 T

NEMF

211-5300-3

chr14:
50251653-50251653

C

T

exonic

Unknown

nonsynonymous SNV

NM_001301732
NM_004713

c.G3080A
c.G3143A

p.R1027H
p.R1048H

29.2

Stessman2017 T

NEMF

214-17006-1

chr14:
50269285-50269285

C

T

exonic

Unknown

nonsynonymous SNV

NM_001301732
NM_004713

c.G1918A
c.G1981A

p.E640K
p.E661K

29.8

-

Stessman2017 T

NEMF

AU038004

chr14:
50251830-50251830

C

A

exonic

Unknown

nonsynonymous SNV

NM_001301732
NM_004713

c.G2990T
c.G3053T

p.G997V
p.G1018V

22.4

-

Stessman2017 T

NEMF

P9B3S

chr14:
50280770-50280770

T

C

splicing

Inherited

splicing

18.62

-

Stessman2017 T

NEMF

AU2000305

chr14:
50280025-50280025

T

C

intronic

De novo

-

-

Yuen2017 G

NEMF

11676.p1

chr14:
50307512-50307512

C

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001301732
NM_004713

c.G430T
c.G430T

p.D144Y
p.D144Y

27.4

-

Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E

NEMF

12705.p1

chr14:
50300107-50300107

C

A

intronic

Mosaic

-

-

Dou2017 E

NEMF

M15110

chr14:
50307529-50307529

C

T

exonic

Unknown

nonsynonymous SNV

NM_001301732
NM_004713

c.G413A
c.G413A

p.R138Q
p.R138Q

35.0

Guo2018 T
Wang2016 T

NEMF

1-0368-004

chr14:
50302164-50302164

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NEMF

AU4228301

chr14:
50350308-50350308

G

A

intergenic

De novo

-

-

Yuen2017 G

NEMF

SP0191651

chr14:
50267402-50267402

G

A

exonic

nonsynonymous SNV

NM_001301732
NM_004713

c.C2045T
c.C2108T

p.T682M
p.T703M

13.61

-

Zhou2022 GE

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 notes	View
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