Variant Results

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Results for "MXRA5"

Variant Events: 13

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

MXRA5

Al-Mubarak2017:ASD-19

chrX:
3261847-3261847

G

A

exonic

Unknown

nonsynonymous SNV

NM_015419

c.C28T

p.L10F

14.89

-

Al-Mubarak2017 E

MXRA5

AU1542303

chrX:
3457108-3457108

T

G

intergenic

De novo

-

-

Yuen2017 G

MXRA5

2-1280-003

chrX:
3248358-3248358

T

C

exonic

De novo

nonsynonymous SNV

NM_015419

c.A410G

p.N137S

16.56

-

Jiang2013 G
Yuen2017 G
Zhou2022 GE

MXRA5

2-1343-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

MXRA5

AU4150301

chrX:
3372192-3372192

T

C

intergenic

De novo

-

-

Yuen2017 G

MXRA5

MCD-032-4

chrX:
3240379-3240379

G

C

exonic

Maternal

nonsynonymous SNV

NM_015419

c.C3347G

p.T1116R

8.509

-

Tuncay2023 G

MXRA5

1-0073-003

chrX:
3298351-3298351

T

A

intergenic

De novo

-

-

Yuen2017 G

MXRA5

AU1988302

chrX:
3305806-3305815

GTATATATAT

GTATATAT

intergenic

De novo

-

-

Yuen2017 G

MXRA5

AU4024303

chrX:
3509325-3509330

AAAGAA

AAA

intergenic

De novo

-

-

Yuen2017 G

MXRA5

AU2000302

chrX:
3335246-3335256

CCTCCATCTCT

CCT

intergenic

De novo

-

-

Yuen2017 G

MXRA5

5-0103-003

chrX:
3464969-3464991

GGGAAGGAAGGAAGGAAGGAAGG

GGGAAGGAAGGAAGGAAGG

intergenic

De novo

-

-

Yuen2017 G

MXRA5

AU056005

chrX:
3488160-3488198

ATATATGTATATAATGTATATATGTATATATATGTATAT

ATATAT

intergenic

De novo

-

-

Yuen2017 G

MXRA5

AU3398301

chrX:
3488315-3488324

GTATATATAT

GTATATAT

intergenic

De 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
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