Variant Results

or

Results for "IMMP2L"

Variant Events: 135

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

IMMP2L

2-0033-003

chr7:
110402925-110402925

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

IMMP2L

AU4219302

chr7:
110413695-110413695

C

T

intronic

De novo

-

Yuen2017 G

IMMP2L

AU066404

chr7:
110409582-110409582

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

1-0175-003

chr7:
111351842-111351842

T

C

intergenic

De novo

-

Yuen2017 G

IMMP2L

1-0274-003

chr7:
111190108-111190108

T

TAACAA

intronic

De novo

-

Yuen2017 G

IMMP2L

13576.p1

chr7:
110823729-110823729

T

C

intronic

De novo

-

Wilfert2021 G

IMMP2L

MSSNG00328-003

chr7:
110466835-110466835

A

G

intronic

De novo

-

Trost2022 G

IMMP2L

7-0143-003

chr7:
111315709-111315709

T

C

intergenic

De novo

-

Yuen2017 G

IMMP2L

3-0497-001

chr7:
110467545-110467545

A

G

intronic

De novo

-

Trost2022 G

IMMP2L

1-0640-003

chr7:
111122299-111122299

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

7-0484-003

chr7:
110429220-110429220

G

A

intronic

De novo

-

Trost2022 G

IMMP2L

2-1823-003

chr7:
110462671-110462671

G

A

intronic

De novo

-

Trost2022 G

IMMP2L

5-0058-003

chr7:
110344865-110344865

T

C

intronic

De novo

-

Trost2022 G

IMMP2L

7-0353-003

chr7:
110345409-110345409

C

A

intronic

De novo

-

Trost2022 G

IMMP2L

1-0611-005

chr7:
110328663-110328663

C

A

intronic

De novo

-

Trost2022 G

IMMP2L

2-1364-003

chr7:
111073612-111073612

C

G

intronic

De novo

-

Yuen2017 G

IMMP2L

4-0040-003

chr7:
110513894-110513894

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

REACH000284

chr7:
110516303-110516303

A

G

intronic

De novo

-

Trost2022 G

IMMP2L

REACH000564

chr7:
110502357-110502357

G

A

intronic

De novo

-

Trost2022 G

IMMP2L

MSSNG00120-003

chr7:
110513761-110513761

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

2-1638-003

chr7:
110484735-110484737

GGC

AAAACTT

intronic

De novo

-

Trost2022 G

IMMP2L

1-0300-004

chr7:
110484741-110484741

G

TACCCT

intronic

De novo

-

Trost2022 G

IMMP2L

MT_86.3

chr7:
110469633-110469633

G

A

intronic

De novo

-

Trost2022 G

IMMP2L

2-1734-004

chr7:
110484701-110484701

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

1-1055-003

chr7:
110606861-110606861

A

AT

intronic

De novo

-

Trost2022 G

IMMP2L

3-0777-000

chr7:
110622222-110622222

T

G

intronic

De novo

-

Trost2022 G

IMMP2L

7-0230-003

chr7:
110556793-110556793

T

C

intronic

De novo

-

Trost2022 G

IMMP2L

7-0127-003

chr7:
110563721-110563724

ACTT

TAGAG

intronic

De novo

-

Trost2022 G

IMMP2L

1-0563-004

chr7:
110543969-110543969

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

MSSNG00028-003

chr7:
110540785-110540785

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

3-0262-000

chr7:
110546930-110546930

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

MSSNG00142-003

chr7:
110524538-110524538

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

SJD_63.3

chr7:
110537597-110537597

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

2-1776-003

chr7:
110683978-110683978

G

T

intronic

De novo

-

Trost2022 G

IMMP2L

MSSNG00089-003

chr7:
110703337-110703338

TG

T

intronic

De novo

-

Trost2022 G

IMMP2L

AU055603

chr7:
110654889-110654889

C

A

intronic

De novo

-

Trost2022 G

IMMP2L

AU055603

chr7:
110663087-110663087

A

C

intronic

De novo

-

Trost2022 G

IMMP2L

1-0075-003

chr7:
111238960-111238960

G

A

intergenic

De novo

-

Yuen2017 G

IMMP2L

REACH000626

chr7:
110645516-110645516

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

MT_75.3

chr7:
110649507-110649507

T

C

intronic

De novo

-

Trost2022 G

IMMP2L

AU059003

chr7:
110635516-110635516

G

T

intronic

De novo

-

Trost2022 G

IMMP2L

MT_59.3

chr7:
110642499-110642499

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

REACH000701

chr7:
110868296-110868296

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

1-1034-003

chr7:
110881788-110881788

T

C

intronic

De novo

-

Trost2022 G

IMMP2L

3-0063-000

chr7:
110835804-110835804

C

CATTGG

intronic

De novo

-

Trost2022 G

IMMP2L

7-0408-003

chr7:
110858475-110858475

C

G

intronic

De novo

-

Trost2022 G

IMMP2L

AU2310301

chr7:
110758764-110758764

C

A

intronic

De novo

-

Trost2022 G
Trost2022 G

IMMP2L

MT_21.3

chr7:
110712882-110712882

C

T

intronic

De novo

-

Trost2022 G

IMMP2L

1-0337-003

chr7:
110732834-110732834

T

C

intronic

De novo

-

Trost2022 G

IMMP2L

MSSNG00066-003

chr7:
111068096-111068096

C

A

intronic

De novo

-

Trost2022 G

IMMP2L

4-0090-003

chr7:
111113920-111113920

A

G

intronic

De novo

-

Trost2022 G

IMMP2L

AU4122301

chr7:
110334613-110334613

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

1-0957-003

chr7:
111024660-111024660

T

C

intronic

De novo

-

Trost2022 G

IMMP2L

AU004403

chr7:
111055028-111055028

T

G

intronic

De novo

-

Trost2022 G

IMMP2L

AU3881302

chr7:
110540171-110540171

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-0003-003

chr7:
111024212-111024212

A

AAG

intronic

De novo

-

Trost2022 G

IMMP2L

2-0003-003

chr7:
111024214-111024214

A

AGG

intronic

De novo

-

Trost2022 G

IMMP2L

1-0264-005

chr7:
110910649-110910649

T

C

intronic

De novo

-

Trost2022 G

IMMP2L

4-0062-003

chr7:
110959179-110959179

G

C

intronic

De novo

-

Trost2022 G

IMMP2L

2-0270-004

chr7:
111164557-111164564

CCCCAAGC

ATAAAGGA

intronic

De novo

-

Trost2022 G

IMMP2L

1-1144-003

chr7:
111183781-111183781

G

C

intronic

De novo

-

Trost2022 G

IMMP2L

2-0270-004

chr7:
111164544-111164550

CCAGGGT

TTCTGAG

intronic

De novo

-

Trost2022 G

IMMP2L

2-0270-004

chr7:
111164553-111164554

TG

A

intronic

De novo

-

Trost2022 G

IMMP2L

3-0490-000

chr7:
111154442-111154442

G

A

intronic

De novo

-

Trost2022 G

IMMP2L

PN400441

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

2-0270-004

chr7:
111164531-111164541

CCAGATAATAA

AGGGCAAGTGT

intronic

De novo

-

Trost2022 G

IMMP2L

1-0956-003

chr7:
111127122-111127122

T

A

intronic

De novo

-

Trost2022 G

IMMP2L

MSSNG00025-003

chr7:
111152976-111152976

C

A

intronic

De novo

-

Trost2022 G

IMMP2L

AU1795303

chr7:
110775756-110775756

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

1-0405-003

chr7:
110310861-110310861

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU3698301

chr7:
111084736-111084736

T

G

intronic

De novo

-

Yuen2017 G

IMMP2L

1-0384-003

chr7:
110531405-110531405

G

T

intronic

De novo

-

Yuen2017 G

IMMP2L

PN400111

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

AU3053302

chr7:
110587218-110587218

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-0318-003

chr7:
111013796-111013796

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU000704

chr7:
111201166-111201166

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

PN400391

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

1-0715-003

chr7:
111059573-111059573

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

1-0175-004

chr7:
111351842-111351842

T

C

intergenic

De novo

-

Yuen2017 G

IMMP2L

2-1153-003

chr7:
111020457-111020457

T

C

intronic

De novo

-

Yuen2017 G

IMMP2L

AU3891303

chr7:
110725951-110725951

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

7-0148-003

chr7:
110562563-110562563

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

PN400515

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

PN400179

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

2-1318-004

chr7:
110876311-110876311

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-1466-003

chr7:
110331590-110331590

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

IMMP2L

PN400416

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

1-0296-004

chr7:
111346285-111346285

G

A

intergenic

De novo

-

Yuen2017 G

IMMP2L

AU060403

chr7:
111021582-111021582

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU3764302

chr7:
110648307-110648307

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

SP0071558

chr7:
110526714-110526714

G

A

exonic

nonsynonymous SNV

NM_032549
NM_001244606

c.C343T
c.C343T

p.R115C
p.R115C

17.8

4.0E-4

Zhou2022 GE

IMMP2L

AU3725302

chr7:
110618033-110618033

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU047904

chr7:
110375678-110375678

C

T

intronic

De novo

-

Yuen2017 G

IMMP2L

1-0161-003

chr7:
110781508-110781508

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU3885304

chr7:
110919733-110919733

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

5-0140-003

chr7:
110718487-110718487

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

1-0252-003

chr7:
111203887-111203887

C

T

intergenic

De novo

-

Yuen2017 G

IMMP2L

2-1480-003

chr7:
110439069-110439069

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-1452-003

chr7:
110998156-110998156

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

IMMP2L

3-0111-000

chr7:
110368855-110368855

C

T

intronic

De novo

-

Yuen2016 G

IMMP2L

AU3874301

chr7:
110364547-110364547

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

1-0395-003

chr7:
110760809-110760809

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU4199303

chr7:
110794892-110794892

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

PN400581

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

1-0969-003

chr7:
111344066-111344066

G

A

intergenic

De novo

-

Yuen2017 G

IMMP2L

AU4027306

chr7:
110967647-110967652

TAAAAA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-1160-003

chr7:
111311020-111311020

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IMMP2L

PN400375

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

7-0191-003

chr7:
111286096-111286096

A

G

intergenic

De novo

-

Yuen2017 G

IMMP2L

PN400394

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

2-1506-003

chr7:
110926615-110926615

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-1398-003

chr7:
110736754-110736754

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU2975302

chr7:
111126040-111126040

C

A

intronic

De novo

-

Yuen2017 G

IMMP2L

7-0149-003

chr7:
110881798-110881798

A

G

intronic

De novo

-

Yuen2017 G

IMMP2L

PN400582

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

1-0627-006

chr7:
110837951-110837951

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-1183-003

chr7:
110400355-110400355

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU2000305

chr7:
111162826-111162826

A

C

intronic

De novo

-

Yuen2017 G

IMMP2L

PN400464

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

14482.p1

chr7:
110912460-110912460

T

C

intronic

De novo

-

Turner2016 G

IMMP2L

13543.p1

chr7:
111121331-111121331

A

C

intronic

De novo

-

Turner2016 G

IMMP2L

2-0223-003

chr7:
110575930-110575930

G

A

intronic

De novo

-

Yuen2017 G

IMMP2L

1-0354-003

chr7:
110766449-110766449

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU3839303

chr7:
110667740-110667740

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

AU060703

chr7:
111156368-111156368

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-1317-003

chr7:
110680126-110680126

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

IMMP2L

2-0022-004

chr7:
110442018-110442019

TA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-1210-003

chr7:
110577628-110577628

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

1-0232-004

chr7:
110723221-110723221

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

2-0090-003

chr7:
111177877-111177877

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IMMP2L

PN400564

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

1-0395-004

chr7:
110760809-110760809

G

C

intronic

De novo

-

Yuen2017 G

IMMP2L

PN400523

chr7:
110603126-110603133

CTTTTCAG

C

intronic

Unknown

-

0.0053

Leblond2019 E

IMMP2L

2-1120-003

chr7:
111036608-111036608

A

G

intronic

De novo

-

Yuen2017 G

IMMP2L

AU2950302

chr7:
110329223-110329223

T

A

intronic

De novo

-

Trost2022 G
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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