Variant Results

or

Results for "SMCHD1"

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

SMCHD1

1-0467-003

chr18:
2825324-2825325

TG

T

intergenic

De novo

-

Yuen2017 G

SMCHD1

14136.p1

chr18:
2697802-2697802

A

G

intronic

De novo

-

Satterstrom2020 E

SMCHD1

Chen2017:63

chr18:
2667020-2667020

A

G

exonic

De novo

synonymous SNV

NM_015295

c.A414G

p.Q138Q

-

Chen2017 E

SMCHD1

200675506_1082035037

chr18:
2667020-2667020

A

G

exonic

De novo

synonymous SNV

NM_015295

c.A414G

p.Q138Q

-

Fu2022 E

SMCHD1

GM181797

chr18:
2700452-2700452

G

A

intronic

De novo

-

Fu2022 E

SMCHD1

DEASD_0134_001

chr18:
2666192-2666192

A

G

exonic

De novo

nonsynonymous SNV

NM_015295

c.A223G

p.T75A

11.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SMCHD1

200675506@1082035037

chr18:
2667020-2667020

A

G

exonic

De novo

synonymous SNV

NM_015295

c.A414G

p.Q138Q

-

Satterstrom2020 E

SMCHD1

10C101297

chr18:
2743776-2743776

A

G

exonic

De novo

nonsynonymous SNV

NM_015295

c.A3651G

p.I1217M

9.723

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E

SMCHD1

AU3725302

chr18:
2778789-2778789

C

T

intronic

De novo

-

Yuen2017 G

SMCHD1

150941812

chr18:
2743776-2743776

A

G

exonic

De novo

nonsynonymous SNV

NM_015295

c.A3651G

p.I1217M

9.723

-

Satterstrom2020 E

SMCHD1

AU3861302

chr18:
2772292-2772292

A

C

exonic

De novo

nonsynonymous SNV

NM_015295

c.A5097C

p.Q1699H

15.7

-

Yuen2017 G

SMCHD1

AU072005

chr18:
2772084-2772097

TTGTGTGTGTGTGT

TTGTGTGTGT

intronic

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
Curation notes	View
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