Variant Results

or

Results for "MIPOL1"

Variant Events: 57

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

1-0051-005

chr14:
37711799-37711799

A

ATAAATG

intronic

De novo

-

Trost2022 G

MIPOL1

mAGRE2155

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

Cirnigliaro2023 G

MIPOL1

AU2310301

chr14:
37716334-37716334

A

C

UTR5

De novo

-

Trost2022 G

MIPOL1

mAGRE2154

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

Cirnigliaro2023 G

MIPOL1

1-0051-005

chr14:
37711795-37711797

CTC

ATT

intronic

De novo

-

Trost2022 G

MIPOL1

1-0051-004

chr14:
37711799-37711799

A

ATAAATG

intronic

De novo

-

Trost2022 G

MIPOL1

1-0051-005

chr14:
37711789-37711792

CCAG

AATTTAT

intronic

De novo

-

Trost2022 G

MIPOL1

1-0051-004

chr14:
37711795-37711797

CTC

ATT

intronic

De novo

-

Trost2022 G

MIPOL1

1-0683-004

chr14:
37694693-37694693

A

C

intronic

De novo

-

Trost2022 G

MIPOL1

1-0051-004

chr14:
37711789-37711792

CCAG

AATTTAT

intronic

De novo

-

Trost2022 G

MIPOL1

1-1037-003

chr14:
37850662-37850662

T

C

intronic

De novo

-

Trost2022 G

MIPOL1

MSSNG00381-003

chr14:
37854562-37854562

C

A

intronic

De novo

-

Trost2022 G

MIPOL1

2-1817-003

chr14:
37812140-37812140

A

G

intronic

De novo

-

Trost2022 G

MIPOL1

3-0261-000

chr14:
37845549-37845557

CCTGACCAG

C

intronic

De novo

-

Trost2022 G

MIPOL1

SSC08004

chr14:
37777232-37777232

A

G

intronic

De novo

-

Trost2022 G

MIPOL1

AM03ZF-03

chr14:
37807682-37807682

C

T

intronic

De novo

-

Trost2022 G

MIPOL1

MSSNG00013-003

chr14:
37749519-37749519

C

T

intronic

De novo

-

Trost2022 G

MIPOL1

4-0004-003

chr14:
37764140-37764140

A

G

intronic

De novo

-

Trost2022 G

MIPOL1

MSSNG00350-003

chr14:
37953658-37953658

T

G

intronic

De novo

-

Trost2022 G

MIPOL1

MT_6.3

chr14:
37958385-37958385

T

A

intronic

De novo

-

Trost2022 G

MIPOL1

1-1129-003

chr14:
37937028-37937028

G

C

intronic

De novo

-

Trost2022 G

MIPOL1

MT_35.3

chr14:
37944309-37944309

A

G

intronic

De novo

-

Trost2022 G

MIPOL1

SJD_46.3

chr14:
37926075-37926075

A

G

intronic

De novo

-

Trost2022 G

MIPOL1

5-1009-003

chr14:
37930050-37930051

AA

TT

intronic

De novo

-

Trost2022 G

MIPOL1

AU2303301

chr14:
37867222-37867222

A

C

intronic

De novo

-

Trost2022 G

MIPOL1

1-0604-003

chr14:
37690824-37690838

AAGAGAGAGAGAGAG

AAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

MIPOL1

REACH000668

chr14:
37869322-37869322

G

C

intronic

De novo

-

Trost2022 G

MIPOL1

2-1514-003

chr14:
37987380-37987380

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

2-1814-003

chr14:
38019474-38019474

T

C

UTR3

De novo

-

Trost2022 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

3-0253-000

chr14:
38002284-38002284

T

C

intronic

De novo

-

Trost2022 G

MIPOL1

2-0307-003

chr14:
37891058-37891058

A

G

intronic

De novo

-

Trost2022 G
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

SP0065579

chr14:
38016179-38016179

G

T

UTR3

De novo

-

Trost2022 G

MIPOL1

1-0489-003

chr14:
37665319-37665336

CAGAGAGAGAGAGAGAGA

CAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

MIPOL1

1-1215-003

chr14:
37977157-37977157

A

C

intronic

De novo

-

Trost2022 G

MIPOL1

AU2283301

chr14:
37980619-37980619

C

T

intronic

De novo

-

Trost2022 G

MIPOL1

2-1305-003

chr14:
37798045-37798045

G

A

intronic

De novo

-

Yuen2016 G

MIPOL1

AU066404

chr14:
37927568-37927568

T

C

intronic

De novo

-

Trost2022 G
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
Zhou2022 GE

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

5-0055-003

chr14:
37689104-37689104

T

TTGAGTAATATCTTTGAGTAATGTAGTTTGAGTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

AU008505

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

AU4239301

chr14:
38000695-38000695

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

2-1460-003

chr14:
37779284-37779284

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

14153.p1

chr14:
37962226-37962226

A

T

intronic

De novo

-

Turner2016 G

MIPOL1

2-1460-003

chr14:
37781992-37781992

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

5-0050-003

chr14:
37918174-37918174

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

1-0683-003

chr14:
37694693-37694693

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

AU2165301

chr14:
37988469-37988469

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

7-0001-003

chr14:
37727515-37727515

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

AU2123301

chr14:
37976440-37976440

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MIPOL1

4-0085-003

chr14:
37680954-37680954

A

G

intronic

De novo

-

Trost2022 G

MIPOL1

MSSNG00426-003

chr14:
37691614-37691614

A

AT

intronic

De novo

-

Trost2022 G

MIPOL1

2-1750-003

chr14:
37667159-37667159

C

T

UTR5

De novo

-

Trost2022 G

MIPOL1

7-0048-003

chr14:
37668386-37668386

A

G

intronic

De novo

-

Trost2022 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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