Variant Results

or

or

Results for "NEXMIF"

Variant Events: 18

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

NEXMIF

Leuven_415034

chrX:
73963961-73963961

C

T

exonic

Unknown

nonsynonymous SNV

NM_001008537

c.G431A

p.R144Q

23.5

-

Wang2020 T

NEXMIF

7-0176-003

chrX:
73961619-73961619

C

CGAAA

exonic

De novo

frameshift insertion

NM_001008537

c.2772_2773insTTTC

p.E925fs

-

-

Wang2020 T

NEXMIF

SSC02825

chrX:
73960990-73960990

G

T

exonic

De novo

nonsynonymous SNV

NM_001008537

c.C3402A

p.H1134Q

14.88

Trost2022 G

NEXMIF

AU030103

chrX:
74015989-74016015

CATATATATTATATATATTATATATAT

CATATATATTATATATAT

intronic

De novo

-

-

Yuen2017 G

NEXMIF

AU3154301

chrX:
74010419-74010419

A

G

intronic

De novo

-

-

Yuen2017 G

NEXMIF

SP0132961

chrX:
73960491-73960491

T

A

exonic

nonsynonymous SNV

NM_001008537

c.A3901T

p.N1301Y

13.09

-

Zhou2022 GE

NEXMIF

AU3154301

chrX:
74010440-74010440

T

C

intronic

De novo

-

-

Yuen2017 G

NEXMIF

AU3728301

chrX:
74090584-74090584

A

ATCAGAG

intronic

De novo

-

-

Yuen2017 G

NEXMIF

AU3903301

chrX:
74055056-74055056

G

C

intronic

De novo

-

-

Yuen2017 G

NEXMIF

2-1373-003

chrX:
74251866-74251866

G

A

intergenic

De novo

-

-

Yuen2017 G

NEXMIF

AU3728301

chrX:
74090589-74090589

A

G

intronic

De novo

-

-

Yuen2017 G

NEXMIF

1-0925-003

chrX:
74010256-74010256

C

G

intronic

De novo

-

-

Yuen2017 G

NEXMIF

1-0393-003

chrX:
73960826-73960826

T

TTCTGAGAAGAGTG

exonic

frameshift insertion

NM_001008537

c.3565_3566insCACTCTTCTCAGA

p.Q1189fs

-

-

Zhou2022 GE

NEXMIF

1-0393-003

chrX:
73960823-73960823

C

T

exonic

nonsynonymous SNV

NM_001008537

c.G3569A

p.S1190N

14.16

Zhou2022 GE

NEXMIF

Chen2021:16

chrX:
73960230-73960230

C

T

exonic

Maternal

nonsynonymous SNV

NM_001008537

c.G4162A

p.A1388T

9.315

Chen2021 GET

NEXMIF

SF0132961.p1

chrX:
73960491-73960491

T

A

exonic

nonsynonymous SNV

NM_001008537

c.A3901T

p.N1301Y

13.09

-

Wang2020 T

NEXMIF

11290.p1

chrX:
73960990-73960990

G

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_001008537

c.C3402A

p.H1134Q

14.88

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T

NEXMIF

SanDiego_A8Z8M

chrX:
73959987-73959987

G

A

exonic

Unknown

stopgain

NM_001008537

c.C4405T

p.R1469X

48.0

Wang2020 T

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
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