Variant Results

or

Results for "LHFPL3"

Variant Events: 34

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

SSC07766

chr7:
104377229-104377229

T

A

exonic

De novo

nonsynonymous SNV

NM_199000

c.T553A

p.S185T

15.78

-

Lim2017 E

LHFPL3

iHART2576

chr7:
104263473-104263473

T

C

intronic

Maternal

6.835

-

Ruzzo2019 G

LHFPL3

A30

chr7:
104119909-104119909

G

A

intronic

De novo

-

Wu2018 G

LHFPL3

AU3787302

chr7:
104249122-104249122

G

T

intronic

De novo

-

Yuen2017 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

2-1277-004

chr7:
104133795-104133795

C

G

intronic

De novo

-

Yuen2017 G

LHFPL3

5-0055-003

chr7:
104127559-104127559

T

A

intronic

De novo

-

Yuen2017 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

-

Yuen2017 G

LHFPL3

1-0898-003

chr7:
104425090-104425090

T

C

intronic

De novo

-

Yuen2017 G

LHFPL3

7-0143-003

chr7:
104155999-104155999

A

G

intronic

De novo

-

Yuen2017 G

LHFPL3

63-343

chr7:
104417326-104417326

C

T

intronic

De novo

-

Michaelson2012 G

LHFPL3

1-0218-003

chr7:
104058966-104058966

T

TGA

intronic

De novo

-

Yuen2017 G

LHFPL3

1-0569-003

chr7:
104087234-104087234

C

T

intronic

De novo

-

Yuen2017 G

LHFPL3

1-0208-003

chr7:
104229388-104229388

G

T

intronic

De novo

-

Yuen2017 G

LHFPL3

2-0320-003

chr7:
104457524-104457524

C

G

intronic

De novo

-

Yuen2017 G

LHFPL3

7-0032-003

chr7:
104414851-104414851

G

A

intronic

De novo

-

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

-

Yuen2016 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

AU4237304

chr7:
104092649-104092649

T

G

intronic

De novo

-

Yuen2017 G

LHFPL3

1-0541-004

chr7:
104352891-104352891

T

C

intronic

De novo

-

Yuen2017 G

LHFPL3

2-1592-003

chr7:
104423386-104423386

C

T

intronic

De novo

-

Yuen2017 G

LHFPL3

1-0193-003

chr7:
104457058-104457058

T

C

intronic

De novo

-

Yuen2017 G

LHFPL3

2-1166-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

LHFPL3

AU2569303

chr7:
104055158-104055158

G

A

intronic

De novo

-

Yuen2017 G

LHFPL3

AU3951301

chr7:
104164969-104164969

C

G

intronic

De novo

-

Yuen2017 G

LHFPL3

1-0344-003

chr7:
104184345-104184345

C

T

intronic

De novo

-

Yuen2017 G

LHFPL3

AU3881302

chr7:
104409470-104409470

T

C

intronic

De novo

-

Yuen2017 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

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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