Variant Results

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Results for "MUC2"

Variant Events: 20

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

MUC2

09C82560

chr11:
1101090-1101090

G

A

exonic

De novo

nonsynonymous SNV

NM_002457

c.G7477A

p.V2493I

6.394

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

MUC2

Chen2017:83

chr11:
1075819-1075819

C

T

exonic

De novo

nonsynonymous SNV

NM_002457

c.C245T

p.P82L

0.195

-

Chen2017 E

MUC2

2-0256-004

chr11:
1132281-1132281

T

C

intergenic

De novo

-

-

Yuen2017 G

MUC2

12782.p1

chr11:
1093105-1093105

C

G

exonic

De novo

nonsynonymous SNV

NM_002457

c.C4924G

p.P1642A

4.06

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

MUC2

12693.p1

chr11:
1101883-1101883

G

A

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

MUC2

Lim2017:68584

chr11:
1104228-1104228

G

A

exonic

De novo

nonsynonymous SNV

NM_002457

c.G8407A

p.A2803T

8.35

-

Lim2017 E

MUC2

11391.p1

chr11:
1084364-1084364

C

T

exonic

De novo

synonymous SNV

NM_002457

c.C2496T

p.G832G

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MUC2

11441.p1

chr11:
1090362-1090362

G

A

exonic

De novo

nonsynonymous SNV

NM_002457

c.G3658A

p.V1220I

0.644

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

MUC2

14558.p1

chr11:
1090971-1090971

C

T

exonic

De novo

nonsynonymous SNV

NM_002457

c.C3866T

p.P1289L

5.053

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MUC2

11453.p1

chr11:
1104228-1104228

G

A

exonic

De novo

nonsynonymous SNV

NM_002457

c.G8407A

p.A2803T

8.35

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

MUC2

13557.p1

chr11:
1104266-1104266

G

A

UTR3

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MUC2

A27

chr11:
1133550-1133551

AG

A

intergenic

De novo

-

-

Wu2018 G

MUC2

08C77419

chr11:
1084372-1084372

T

C

exonic

De novo

nonsynonymous SNV

NM_002457

c.T2504C

p.I835T

7.789

-

Satterstrom2020 E

MUC2

SP0138252

chr11:
1088875-1088875

T

G

intronic

De novo

-

-

Fu2022 E

MUC2

2-1374-003

chr11:
1104765-1104765

G

GCA

downstream

De novo

-

-

Yuen2017 G

MUC2

SP0124673

chr11:
1081025-1081025

C

A

intronic

De novo

-

-

Fu2022 E

MUC2

SP0024927

chr11:
1079860-1079860

G

A

intronic

De novo

-

-

Fu2022 E

MUC2

09C82566

chr11:
1093562-1093562

C

G

exonic

De novo

nonsynonymous SNV

NM_002457

c.C5381G

p.T1794S

0.008

-

DeRubeis2014 E
Kosmicki2017 E

MUC2

09C90833

chr11:
1093851-1093851

A

C

exonic

De novo

synonymous SNV

NM_002457

c.A5658C

p.P1886P

-

Satterstrom2020 E

MUC2

SP0012327

chr11:
1097783-1097783

C

T

exonic

De novo

synonymous SNV

NM_002457

c.C6864T

p.N2288N

-

Fu2022 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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