Variant Results

or

Results for "LTBP1"

Variant Events: 65

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

LTBP1

A13

chr2:
33548778-33548778

A

G

intronic

De novo

-

Wu2018 G

LTBP1

1-0395-003

chr2:
33553708-33553708

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

5-0106-003

chr2:
33581468-33581468

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

1-0133-003

chr2:
33237960-33237960

T

C

intronic

De novo

-

Trost2022 G

LTBP1

MSSNG00388-003

chr2:
33207251-33207251

A

G

intronic

De novo

-

Trost2022 G

LTBP1

1-0603-003

chr2:
33245018-33245018

C

T

intronic

De novo

-

Trost2022 G

LTBP1

MSSNG00029-003

chr2:
33240909-33240909

G

A

intronic

De novo

-

Trost2022 G

LTBP1

5-5020-003

chr2:
33186572-33186572

A

G

intronic

De novo

-

Trost2022 G

LTBP1

2-0149-005

chr2:
33261239-33261239

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

MSSNG00024-004

chr2:
33196800-33196800

G

A

intronic

De novo

-

Trost2022 G

LTBP1

3-0702-000

chr2:
33193002-33193002

A

G

intronic

De novo

-

Trost2022 G

LTBP1

9-0010-003

chr2:
33315292-33315292

A

G

intronic

De novo

-

Trost2022 G

LTBP1

5-5186-003

chr2:
33312360-33312360

C

G

intronic

De novo

-

Trost2022 G

LTBP1

2-1349-003

chr2:
33342883-33342883

T

A

intronic

De novo

-

Trost2022 G

LTBP1

AU2639301

chr2:
33340135-33340141

ACACACG

A

intronic

De novo

-

Trost2022 G

LTBP1

1-1051-003

chr2:
33283807-33283807

T

A

intronic

De novo

-

Trost2022 G

LTBP1

MSSNG00023-003

chr2:
33260184-33260184

A

G

intronic

De novo

-

Trost2022 G

LTBP1

2-0070-004

chr2:
33477922-33477922

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

2-0129-005

chr2:
33294060-33294062

TGC

GGG

intronic

De novo

-

Trost2022 G

LTBP1

2-1430-003

chr2:
33316634-33316634

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LTBP1

SJD_58.3

chr2:
33284518-33284518

G

GAGAC

intronic

De novo

-

Trost2022 G

LTBP1

1-0674-003

chr2:
33500750-33500750

T

A

intronic

De novo

-

Trost2022 G

LTBP1

3-0175-000

chr2:
33456779-33456779

G

T

intronic

De novo

-

Trost2022 G

LTBP1

MT_20.3

chr2:
33506863-33506864

AG

A

intronic

De novo

-

Trost2022 G

LTBP1

3-0090-001

chr2:
33503000-33503000

C

T

intronic

De novo

-

Trost2022 G

LTBP1

AU004403

chr2:
33397824-33397824

A

C

intronic

De novo

-

Trost2022 G

LTBP1

2-1232-003

chr2:
33386952-33386952

T

C

intronic

De novo

-

Trost2022 G

LTBP1

11301_p1

chr2:
33572486-33572486

A

C

exonic

De novo

nonsynonymous SNV

NM_001166264
NM_001166266
NM_000627
NM_001166265
NM_206943

c.A2805C
c.A2646C
c.A2931C
c.A2772C
c.A3909C

p.E935D
p.E882D
p.E977D
p.E924D
p.E1303D

20.4

-

Fu2022 E

LTBP1

1026

chr2:
33443082-33443082

C

T

intronic

De novo

-

Trost2022 G

LTBP1

3-0019-000

chr2:
33405805-33405805

G

C

intronic

De novo

-

Trost2022 G

LTBP1

AU4356302

chr2:
33451498-33451498

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

AU2729301

chr2:
33524430-33524430

A

G

intronic

De novo

-

Trost2022 G

LTBP1

AU2793301

chr2:
33520607-33520607

G

GATA

intronic

De novo

-

Trost2022 G

LTBP1

MSSNG00122-003

chr2:
33549598-33549598

C

T

intronic

De novo

-

Trost2022 G

LTBP1

SJD_46.3

chr2:
33528502-33528502

C

T

intronic

De novo

-

Trost2022 G

LTBP1

1-1133-003

chr2:
33512793-33512793

G

A

intronic

De novo

-

Trost2022 G

LTBP1

MSSNG00012-004A

chr2:
33509819-33509819

T

C

intronic

De novo

-

Trost2022 G

LTBP1

2-1659-003

chr2:
33517951-33517951

T

A

intronic

De novo

-

Trost2022 G

LTBP1

MSSNG00466-003

chr2:
33514160-33514160

C

T

intronic

De novo

-

Trost2022 G

LTBP1

2-0223-003

chr2:
33177015-33177015

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

1-1109-003

chr2:
33613992-33613992

G

T

intronic

De novo

-

Trost2022 G

LTBP1

AU4093304

chr2:
33424272-33424272

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

SP0181697

chr2:
33572604-33572604

G

A

intronic

De novo

-

8.256E-6

Trost2022 G

LTBP1

AU2427301

chr2:
33572566-33572566

G

A

exonic

De novo

nonsynonymous SNV

NM_001166264
NM_001166266
NM_000627
NM_001166265
NM_206943

c.G2885A
c.G2726A
c.G3011A
c.G2852A
c.G3989A

p.R962Q
p.R909Q
p.R1004Q
p.R951Q
p.R1330Q

15.98

0.0046

Trost2022 G

LTBP1

3-0307-000

chr2:
33458684-33458684

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

SJD_50.5

chr2:
33608440-33608440

A

G

intronic

De novo

-

Trost2022 G

LTBP1

AU072504

chr2:
33506769-33506769

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

1-0628-003

chr2:
33578385-33578385

A

G

intronic

De novo

-

Trost2022 G

LTBP1

2-1280-003

chr2:
33325341-33325341

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

LTBP1

SP0125058

chr2:
33172660-33172660

C

T

exonic

nonsynonymous SNV

NM_206943

c.C269T

p.P90L

9.577

-

Zhou2022 GE

LTBP1

AU3053302

chr2:
33267895-33267895

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

AU4033304

chr2:
33278598-33278598

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

SP0021004

chr2:
33172618-33172618

C

T

exonic

nonsynonymous SNV

NM_206943

c.C227T

p.S76F

3.562

-

Zhou2022 GE

LTBP1

AU4056302

chr2:
33295588-33295588

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

1-0395-004

chr2:
33553708-33553708

C

T

intronic

De novo

-

Yuen2017 G

LTBP1

AU4314302

chr2:
33423516-33423516

A

G

intronic

De novo

-

Yuen2017 G

LTBP1

A25

chr2:
33439479-33439479

G

A

intronic

De novo

-

Wu2018 G

LTBP1

2-1426-003

chr2:
33443510-33443510

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

11301.p1

chr2:
33572486-33572486

A

C

exonic

De novo

nonsynonymous SNV

NM_001166264
NM_001166266
NM_000627
NM_001166265
NM_206943

c.A2805C
c.A2646C
c.A2931C
c.A2772C
c.A3909C

p.E935D
p.E882D
p.E977D
p.E924D
p.E1303D

20.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

LTBP1

AU1933302

chr2:
33544333-33544333

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

7-0192-003

chr2:
33595472-33595472

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

2-1230-003

chr2:
33307402-33307402

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LTBP1

AU3857301

chr2:
33285482-33285484

CAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LTBP1

AU3517302

chr2:
33378207-33378207

G

C

intronic

De novo

-

Yuen2017 G

LTBP1

2-0022-003

chr2:
33367577-33367577

G

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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