Variant Results

or

Results for "MDN1"

Variant Events: 32

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

MDN1

SSC08153

chr6:
90489930-90489930

C

T

splicing

De novo

splicing

22.4

-

Antaki2022 GE
Trost2022 G

MDN1

2-1148-004

chr6:
90423994-90423994

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDN1

SP0071274

chr6:
90372615-90372615

C

A

exonic

De novo

stopgain

NM_014611

c.G14308T

p.E4770X

55.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MDN1

11118.p1

chr6:
90491340-90491340

T

A

intronic

De novo

-

2.0E-4

Satterstrom2020 E

MDN1

11555.p1

chr6:
90402347-90402347

G

C

exonic

De novo

nonsynonymous SNV

NM_014611

c.C10402G

p.L3468V

11.83

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Zhou2022 GE

MDN1

13621.p1

chr6:
90489930-90489930

C

T

splicing

De novo

splicing

22.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

MDN1

5-0014-004

chr6:
90439212-90439212

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDN1

AU4237302

chr6:
90425813-90425813

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDN1

10C101297

chr6:
90491342-90491342

A

C

intronic

De novo

-

3.0E-4

Kosmicki2017 E

MDN1

SMHC01580d000

chr6:
90437608-90437608

G

A

exonic

De novo

nonsynonymous SNV

NM_014611

c.C5416T

p.R1806C

13.73

6.598E-5

Yuan2023 E

MDN1

1-0489-003

chr6:
90515725-90515725

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MDN1

EGAN00001101241

chr6:
90396697-90396697

C

A

exonic

De novo

nonsynonymous SNV

NM_014611

c.G11496T

p.E3832D

17.5

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MDN1

11456.p1

chr6:
90490514-90490514

C

T

intronic

De novo

-

Turner2016 G

MDN1

618-04-102273

chr6:
90513130-90513130

A

T

exonic

De novo

synonymous SNV

NM_014611

c.T246A

p.A82A

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MDN1

1-0990-003

chr6:
90413609-90413609

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDN1

SP0231358

chr6:
90432783-90432783

C

T

exonic

De novo

nonsynonymous SNV

NM_014611

c.G5858A

p.R1953H

26.0

2.475E-5

Trost2022 G

MDN1

11533.p1

chr6:
90468012-90468012

A

G

exonic

De novo

synonymous SNV

NM_014611

c.T2664C

p.D888D

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

MDN1

SP0067479

chr6:
90372565-90372568

TTCC

T

exonic

De novo

nonframeshift deletion

NM_014611

c.14355_14357del

p.4785_4786del

-

0.0029

Trost2022 G

MDN1

2-1562-003

chr6:
90485810-90485810

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDN1

AU031404

chr6:
90458809-90458809

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDN1

SSC02163

chr6:
90402347-90402347

G

C

exonic

De novo

nonsynonymous SNV

NM_014611

c.C10402G

p.L3468V

11.83

-

Fu2022 E
Lim2017 E
Trost2022 G

MDN1

REACH000747

chr6:
90500406-90500406

A

C

intronic

De novo

-

Trost2022 G

MDN1

MSSNG00077-005

chr6:
90512158-90512160

CTT

C

intronic

De novo

-

Trost2022 G

MDN1

2-0090-003

chr6:
90470833-90470833

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDN1

1025

chr6:
90489429-90489429

C

T

intronic

De novo

-

Trost2022 G

MDN1

SSC00403

chr6:
90468012-90468012

A

G

exonic

De novo

synonymous SNV

NM_014611

c.T2664C

p.D888D

-

Fu2022 E
Lim2017 E
Trost2022 G

MDN1

SSC02015

chr6:
90491340-90491340

T

A

intronic

De novo

-

2.0E-4

Trost2022 G

MDN1

1-0193-003

chr6:
90513922-90513922

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MDN1

5-0049-003

chr6:
90359871-90359871

G

C

exonic

De novo

nonsynonymous SNV

NM_014611

c.C16078G

p.P5360A

16.19

-

Trost2022 G
Zhou2022 GE

MDN1

mAGRE5726

chr6:
90400515-90400520

GGCTAT

G

exonic

Maternal

frameshift deletion

NM_014611

c.10621_10625del

p.I3541fs

-

Cirnigliaro2023 G

MDN1

mAGRE4268

chr6:
90384029-90384030

TA

T

exonic

Paternal

frameshift deletion

NM_014611

c.13040delT

p.V4347fs

-

Cirnigliaro2023 G

MDN1

Wang2023:786

chr6:
90448081-90448081

G

A

exonic

De novo

nonsynonymous SNV

NM_014611

c.C4687T

p.R1563C

12.5

4.119E-5

Wang2023 E

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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