Variant Results

or

Results for "MANSC1"

Variant Events: 11

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

MANSC1

Lim2017:36807

chr12:
12483250-12483250

T

C

exonic

De novo

nonsynonymous SNV

NM_018050

c.A1007G

p.Y336C

9.739

8.243E-6

Lim2017 E

MANSC1

2-1250-003

chr12:
12489553-12489553

T

C

intronic

De novo

-

Yuen2017 G

MANSC1

mAGRE1643

chr12:
12491459-12491459

G

A

exonic

Paternal

stopgain

NM_018050

c.C259T

p.R87X

41.0

-

Cirnigliaro2023 G

MANSC1

iHART1643

chr12:
12491459-12491459

G

A

exonic

Paternal

stopgain

NM_018050

c.C259T

p.R87X

41.0

-

Ruzzo2019 G

MANSC1

AC04-0030-01

chr12:
12483027-12483027

T

C

exonic

De novo

synonymous SNV

NM_018050

c.A1230G

p.E410E

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Zhou2022 GE

MANSC1

09C98493

chr12:
12483385-12483385

G

A

exonic

De novo

nonsynonymous SNV

NM_018050

c.C872T

p.A291V

6.158

1.648E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MANSC1

36807

chr12:
12483250-12483250

T

C

exonic

De novo

nonsynonymous SNV

NM_018050

c.A1007G

p.Y336C

9.739

8.243E-6

Fu2022 E
Trost2022 G

MANSC1

2-1719-003

chr12:
12493389-12493389

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MANSC1

14535.p1

chr12:
12483250-12483250

T

C

exonic

De novo

nonsynonymous SNV

NM_018050

c.A1007G

p.Y336C

9.739

8.243E-6

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

MANSC1

3-0209-000

chr12:
12500279-12500279

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MANSC1

5-0073-003

chr12:
12507066-12507066

A

T

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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