Variant Results

or

Results for "MDC1"

Variant Events: 12

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

MDC1

12498.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

MDC1

12498.p1

chr6:
30666779-30666779

T

C

downstream

De novo

-

Turner2016 G

MDC1

Codina-Sola2015:ASD_32

chr6:
30681076-30681081

TGAAGG

T

exonic

Paternal

frameshift deletion

NM_014641

c.638_642del

p.A213fs

-

0.0018

Codina-Sola2015 E

MDC1

01C05532

chr6:
30682820-30682820

T

C

exonic

De novo

nonsynonymous SNV

NM_014641

c.A133G

p.K45E

16.2

-

Fu2022 E
Satterstrom2020 E

MDC1

SP0032388

chr6:
30672506-30672506

G

C

exonic

De novo

nonsynonymous SNV

NM_014641

c.C4454G

p.T1485S

12.63

-

Fu2022 E

MDC1

AU11304

chr6:
30672041-30672041

C

T

exonic

De novo

nonsynonymous SNV

NM_014641

c.G4919A

p.R1640K

0.788

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

MDC1

10C105876

chr6:
30681921-30681921

A

G

exonic

De novo

nonsynonymous SNV

NM_014641

c.T176C

p.M59T

12.08

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MDC1

SP0124536

chr6:
30675705-30675705

T

C

exonic

De novo

nonsynonymous SNV

NM_014641

c.A2651G

p.E884G

9.943

-

Fu2022 E

MDC1

05HI4255A

chr6:
30680389-30680389

G

A

exonic

De novo

stopgain

NM_014641

c.C1330T

p.R444X

38.0

-

Fu2022 E
Satterstrom2020 E

MDC1

2-1715-003

chr6:
30673010-30673010

G

A

exonic

De novo

nonsynonymous SNV

NM_014641

c.C3950T

p.S1317F

13.73

-

Yuen2017 G

MDC1

Cukier2014:37425

chr6:
30679963-30679963

A

C

exonic

Unknown

nonsynonymous SNV

NM_014641

c.T1756G

p.S586A

7.193

0.0053

Cukier2014 E

MDC1

Cukier2014:37425

chr6:
30680968-30680968

C

T

exonic

Unknown

nonsynonymous SNV

NM_014641

c.G751A

p.E251K

11.69

0.0053

Cukier2014 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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