Variant Results

or

Results for "LHFPL3"

Variant Events: 63

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

LHFPL3

MSSNG00226-003

chr7:
104373964-104373964

C

A

intronic

De novo

-

Trost2022 G

LHFPL3

AU2310301

chr7:
104380038-104380039

AT

A

intronic

De novo

-

Trost2022 G

LHFPL3

1-0264-006

chr7:
104367621-104367623

TTG

T

intronic

De novo

-

Trost2022 G

LHFPL3

MSSNG00226-003

chr7:
104373955-104373955

T

G

intronic

De novo

-

Trost2022 G

LHFPL3

2-1811-004

chr7:
104354940-104354940

C

T

intronic

De novo

-

Trost2022 G

LHFPL3

MSSNG00413-003

chr7:
104361571-104361571

A

G

intronic

De novo

-

Trost2022 G

LHFPL3

7-0058-003

chr7:
104314455-104314465

ACATGTTCAGT

TGAAAAAGACCAAAAAG

intronic

De novo

-

Trost2022 G

LHFPL3

AU4093301

chr7:
104317825-104317826

AG

A

intronic

De novo

-

Trost2022 G

LHFPL3

AU2463301

chr7:
104487211-104487211

G

A

intronic

De novo

-

Trost2022 G

LHFPL3

A30

chr7:
104119909-104119909

G

A

intronic

De novo

-

Wu2018 G

LHFPL3

AU3787302

chr7:
104249122-104249122

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

MSSNG00030-004

chr7:
104467674-104467674

C

A

intronic

De novo

-

Trost2022 G

LHFPL3

1-0037-004

chr7:
104480442-104480446

TATTA

T

intronic

De novo

-

Trost2022 G

LHFPL3

1-0630-003

chr7:
104461366-104461366

T

C

intronic

De novo

-

Trost2022 G

LHFPL3

7-0240-004

chr7:
104465587-104465587

A

G

intronic

De novo

-

Trost2022 G

LHFPL3

2-1277-004

chr7:
104133795-104133795

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

5-0055-003

chr7:
104127559-104127559

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

1-0898-003

chr7:
104425090-104425090

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

7-0143-003

chr7:
104155999-104155999

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

1-0218-003

chr7:
104058966-104058966

T

TGA

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

1-0208-003

chr7:
104229388-104229388

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

2-0320-003

chr7:
104457524-104457524

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

13426.p1

chr7:
104377229-104377229

T

A

exonic

De novo

nonsynonymous SNV

NM_199000

c.T553A

p.S185T

15.78

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

LHFPL3

1-0990-003

chr7:
104315925-104315931

GAATAAT

GAATAATAAT

intronic

De novo

-

Yuen2017 G

LHFPL3

1-0193-003

chr7:
104457058-104457058

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

2-1166-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

LHFPL3

AU2569303

chr7:
104055158-104055158

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

AU3881302

chr7:
104409470-104409470

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

SSC07766

chr7:
104377229-104377229

T

A

exonic

De novo

nonsynonymous SNV

NM_199000

c.T553A

p.S185T

15.78

-

Fu2022 E
Lim2017 E
Trost2022 G

LHFPL3

iHART2576

chr7:
104263473-104263473

T

C

intronic

Maternal

6.835

-

Ruzzo2019 G

LHFPL3

14642.p1

chr7:
104210611-104210611

A

G

intronic

De novo

-

Turner2016 G

LHFPL3

iHART2577

chr7:
104263473-104263473

T

C

intronic

Maternal

6.835

-

Ruzzo2019 G

LHFPL3

12449.p1

chr7:
104071004-104071004

C

T

intronic

De novo

-

Turner2016 G

LHFPL3

1-0044-003

chr7:
104006243-104006243

A

ATAAATAAATAAATAAATAAAAT

intronic

De novo

-

Yuen2017 G

LHFPL3

1-0570-003

chr7:
104043155-104043155

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

63-343

chr7:
104417326-104417326

C

T

intronic

De novo

-

Michaelson2012 G

LHFPL3

1-0569-003

chr7:
104087234-104087234

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

7-0032-003

chr7:
104414851-104414851

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

A4

chr7:
104133568-104133568

T

TT

intronic

De novo

-

Wu2018 G

LHFPL3

1-0304-003

chr7:
104451680-104451680

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

LHFPL3

mAGRE2576

chr7:
104263473-104263473

T

C

intronic

Maternal

6.835

-

Cirnigliaro2023 G

LHFPL3

AU4237304

chr7:
104092649-104092649

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

1-0541-004

chr7:
104352891-104352891

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

2-1592-003

chr7:
104423386-104423386

C

T

intronic

De novo

-

Yuen2017 G

LHFPL3

mAGRE2577

chr7:
104263473-104263473

T

C

intronic

Maternal

6.835

-

Cirnigliaro2023 G

LHFPL3

7-0399-003

chr7:
104087514-104087514

C

T

intronic

De novo

-

Trost2022 G

LHFPL3

3-0749-000A

chr7:
104100920-104100920

G

A

intronic

De novo

-

Trost2022 G

LHFPL3

1-0903-003

chr7:
104006246-104006246

A

AT

intronic

De novo

-

Trost2022 G

LHFPL3

7-0367-003

chr7:
104054462-104054462

A

G

intronic

De novo

-

Trost2022 G

LHFPL3

10-1104-004

chr7:
103987755-103987755

A

G

intronic

De novo

-

Trost2022 G

LHFPL3

AU3951301

chr7:
104164969-104164969

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LHFPL3

1-0344-003

chr7:
104184345-104184345

C

T

intronic

De novo

-

Yuen2017 G

LHFPL3

2-1306-003

chr7:
104264055-104264059

CAACA

AGGAG

intronic

De novo

-

Trost2022 G

LHFPL3

13343.p1

chr7:
104377229-104377229

T

A

exonic

nonsynonymous SNV

NM_199000

c.T553A

p.S185T

15.78

-

Zhou2022 GE

LHFPL3

3-0102-000

chr7:
104306827-104306827

A

G

intronic

De novo

-

Trost2022 G

LHFPL3

2-1169-004

chr7:
104263994-104263994

T

A

intronic

De novo

-

Trost2022 G

LHFPL3

2-1169-004

chr7:
104264055-104264059

CAACA

AGGAG

intronic

De novo

-

Trost2022 G

LHFPL3

MSSNG00045-005

chr7:
104170292-104170292

G

A

intronic

De novo

-

Trost2022 G

LHFPL3

3-0070-000

chr7:
104176719-104176719

C

T

intronic

De novo

-

Trost2022 G

LHFPL3

MSSNG00254-004

chr7:
104107933-104107933

G

A

intronic

De novo

-

Trost2022 G

LHFPL3

1-0141-003

chr7:
104006243-104006243

A

AT

intronic

De novo

-

Yuen2017 G

LHFPL3

1-0344-003

chr7:
104469308-104469308

C

G

intronic

De novo

-

Yuen2017 G

LHFPL3

1030

chr7:
104114141-104114141

G

C

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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