Variant Results

or

Results for "MIPOL1"

Variant Events: 22

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

MIPOL1

2-1305-003

chr14:
37798045-37798045

G

A

intronic

De novo

-

Yuen2016 G

MIPOL1

AU008505

chr14:
37967058-37967062

GACTA

GA

intronic

De novo

-

Yuen2017 G

MIPOL1

AU066404

chr14:
37927568-37927568

T

C

intronic

De novo

-

Yuen2017 G

MIPOL1

AU4239301

chr14:
38000695-38000695

T

C

intronic

De novo

-

Yuen2017 G

MIPOL1

7-0001-003

chr14:
37727515-37727515

A

G

intronic

De novo

-

Yuen2017 G

MIPOL1

2-1460-003

chr14:
37779284-37779284

C

G

intronic

De novo

-

Yuen2017 G

MIPOL1

14153.p1

chr14:
37962226-37962226

A

T

intronic

De novo

-

Turner2016 G

MIPOL1

AU2123301

chr14:
37976440-37976440

C

A

intronic

De novo

-

Yuen2017 G

MIPOL1

2-1460-003

chr14:
37781992-37781992

A

G

intronic

De novo

-

Yuen2017 G

MIPOL1

SP0063005

chr14:
37777554-37777554

A

G

exonic

De novo

nonsynonymous SNV

NM_138731
NM_001195296
NM_001195297

c.A658G
c.A658G
c.A658G

p.T220A
p.T220A
p.T220A

17.3

-

Fu2022 E

MIPOL1

5-0050-003

chr14:
37918174-37918174

A

C

intronic

De novo

-

Yuen2017 G

MIPOL1

1-0604-003

chr14:
37690824-37690838

AAGAGAGAGAGAGAG

AAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

MIPOL1

2-1514-003

chr14:
37987380-37987380

C

G

intronic

De novo

-

Yuen2017 G

MIPOL1

13516.p1

chr14:
37777232-37777232

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MIPOL1

1-0572-003

chr14:
37690824-37690838

AAGAGAGAGAGAGAG

AAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

MIPOL1

1-0683-003

chr14:
37694693-37694693

A

C

intronic

De novo

-

Yuen2017 G

MIPOL1

iHART2155

chr14:
37838804-37838804

A

AAAACAATCAAGAACGTGCT

exonic

Paternal

frameshift insertion

NM_138731
NM_001195296
NM_001195297

c.911_912insAAACAATCAAGAACGTGCT
c.911_912insAAACAATCAAGAACGTGCT
c.911_912insAAACAATCAAGAACGTGCT

p.E304fs
p.E304fs
p.E304fs

-

1.657E-5

Ruzzo2019 G

MIPOL1

2-0307-003

chr14:
37891058-37891058

A

G

intronic

De novo

-

Yuen2017 G

MIPOL1

5-0055-003

chr14:
37689104-37689104

T

TTGAGTAATATCTTTGAGTAATGTAGTTTGAGTA

intronic

De novo

-

Yuen2017 G

MIPOL1

iHART2154

chr14:
37838804-37838804

A

AAAACAATCAAGAACGTGCT

exonic

Paternal

frameshift insertion

NM_138731
NM_001195296
NM_001195297

c.911_912insAAACAATCAAGAACGTGCT
c.911_912insAAACAATCAAGAACGTGCT
c.911_912insAAACAATCAAGAACGTGCT

p.E304fs
p.E304fs
p.E304fs

-

1.657E-5

Ruzzo2019 G

MIPOL1

1-0489-003

chr14:
37665319-37665336

CAGAGAGAGAGAGAGAGA

CAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

MIPOL1

AU2165301

chr14:
37988469-37988469

A

G

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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