Variant Results

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Results for "MUC17"

Variant Events: 19

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

MUC17

12676.p1

chr7:
100679760-100679760

G

A

exonic

De novo

nonsynonymous SNV

NM_001040105

c.G5063A

p.G1688E

0.044

Iossifov2012 E

MUC17

Cukier2014:37024

chr7:
100692149-100692149

C

T

exonic

Unknown

stopgain

NM_001040105

c.C12559T

p.Q4187X

52.0

Cukier2014 E

MUC17

iHART2631

chr7:
100681742-100681743

AT

A

exonic

Maternal

frameshift deletion

NM_001040105

c.7046delT

p.M2349fs

-

-

Ruzzo2019 G

MUC17

SSC09894

chr7:
100681971-100681971

G

A

exonic

De novo

nonsynonymous SNV

NM_001040105

c.G7274A

p.S2425N

1.282

-

Fu2022 E
Lim2017 E

MUC17

iHART2633

chr7:
100681742-100681743

AT

A

exonic

Maternal

frameshift deletion

NM_001040105

c.7046delT

p.M2349fs

-

-

Ruzzo2019 G

MUC17

iHART2705

chr7:
100701287-100701287

C

T

exonic

Paternal

stopgain

NM_001040105

c.C13444T

p.R4482X

54.0

Ruzzo2019 G

MUC17

AC04-0020-01

chr7:
100696348-100696348

G

C

exonic

De novo

synonymous SNV

NM_001040105

c.G13185C

p.V4395V

-

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MUC17

3D612

chr7:
100678377-100678377

G

A

exonic

De novo

nonsynonymous SNV

NM_001040105

c.G3680A

p.R1227K

1.848

-

Fu2022 E
Satterstrom2020 E

MUC17

SP0117917

chr7:
100679974-100679974

G

A

exonic

De novo

synonymous SNV

NM_001040105

c.G5277A

p.T1759T

-

-

Fu2022 E

MUC17

13573.p1

chr7:
100678693-100678693

T

C

exonic

De novo

synonymous SNV

NM_001040105

c.T3996C

p.Y1332Y

-

Iossifov2012 E

MUC17

14378.p1

chr7:
100679700-100679700

T

G

exonic

De novo

nonsynonymous SNV

NM_001040105

c.T5003G

p.V1668G

0.014

-

Krumm2015 E

MUC17

SP0042514

chr7:
100683800-100683800

G

A

exonic

De novo

nonsynonymous SNV

NM_001040105

c.G9103A

p.G3035S

2.911

Fu2022 E

MUC17

14378.p1

chr7:
100679673-100679673

A

G

exonic

De novo

nonsynonymous SNV

NM_001040105

c.A4976G

p.N1659S

0.692

-

Krumm2015 E

MUC17

iHART2007

chr7:
100679572-100679573

TC

T

exonic

Paternal

frameshift deletion

NM_001040105

c.4876delC

p.P1626fs

-

Ruzzo2019 G

MUC17

GEA476

chr7:
100683930-100683930

T

C

exonic

De novo

nonsynonymous SNV

NM_001040105

c.T9233C

p.V3078A

2.055

Fu2022 E

MUC17

14012.p1

chr7:
100681971-100681971

G

A

exonic

De novo

nonsynonymous SNV

NM_001040105

c.G7274A

p.S2425N

1.282

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MUC17

1-0522-003

chr7:
100677433-100677433

C

G

exonic

De novo

synonymous SNV

NM_001040105

c.C2736G

p.T912T

-

-

Yuen2017 G

MUC17

iHART2006

chr7:
100679572-100679573

TC

T

exonic

Paternal

frameshift deletion

NM_001040105

c.4876delC

p.P1626fs

-

Ruzzo2019 G

MUC17

13844.p1

chr7:
100682275-100682275

A

G

exonic

De novo

synonymous SNV

NM_001040105

c.A7578G

p.P2526P

-

Iossifov2014 E
Kosmicki2017 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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