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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     SSC07766chr7:
104377229-104377229
TAexonicDe novononsynonymous SNVNM_199000c.T553Ap.S185T15.78-Lim2017 E
LHFPL3     iHART2576chr7:
104263473-104263473
TCintronicMaternal6.835-Ruzzo2019 G
LHFPL3     A30chr7:
104119909-104119909
GAintronicDe novo--Wu2018 G
LHFPL3     AU3787302chr7:
104249122-104249122
GTintronicDe novo--Yuen2017 G
LHFPL3     14642.p1chr7:
104210611-104210611
AGintronicDe novo--Turner2016 G
LHFPL3     iHART2577chr7:
104263473-104263473
TCintronicMaternal6.835-Ruzzo2019 G
LHFPL3     12449.p1chr7:
104071004-104071004
CTintronicDe novo--Turner2016 G
LHFPL3     2-1277-004chr7:
104133795-104133795
CGintronicDe novo--Yuen2017 G
LHFPL3     5-0055-003chr7:
104127559-104127559
TAintronicDe novo--Yuen2017 G
LHFPL3     1-0044-003chr7:
104006243-104006243
AATAAATAAATAAATAAATAAAATintronicDe novo--Yuen2017 G
LHFPL3     1-0570-003chr7:
104043155-104043155
TCintronicDe novo--Yuen2017 G
LHFPL3     1-0898-003chr7:
104425090-104425090
TCintronicDe novo--Yuen2017 G
LHFPL3     7-0143-003chr7:
104155999-104155999
AGintronicDe novo--Yuen2017 G
LHFPL3     63-343chr7:
104417326-104417326
CTintronicDe novo--Michaelson2012 G
LHFPL3     1-0218-003chr7:
104058966-104058966
TTGAintronicDe novo--Yuen2017 G
LHFPL3     1-0569-003chr7:
104087234-104087234
CTintronicDe novo--Yuen2017 G
LHFPL3     1-0208-003chr7:
104229388-104229388
GTintronicDe novo--Yuen2017 G
LHFPL3     2-0320-003chr7:
104457524-104457524
CGintronicDe novo--Yuen2017 G
LHFPL3     7-0032-003chr7:
104414851-104414851
GAintronicDe novo--Yuen2017 G
LHFPL3     A4chr7:
104133568-104133568
TTTintronicDe novo--Wu2018 G
LHFPL3     1-0304-003chr7:
104451680-104451680
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LHFPL3     13426.p1chr7:
104377229-104377229
TAexonicDe novononsynonymous SNVNM_199000c.T553Ap.S185T15.78-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
LHFPL3     1-0990-003chr7:
104315925-104315931
GAATAATGAATAATAATintronicDe novo--Yuen2017 G
LHFPL3     AU4237304chr7:
104092649-104092649
TGintronicDe novo--Yuen2017 G
LHFPL3     1-0541-004chr7:
104352891-104352891
TCintronicDe novo--Yuen2017 G
LHFPL3     2-1592-003chr7:
104423386-104423386
CTintronicDe novo--Yuen2017 G
LHFPL3     1-0193-003chr7:
104457058-104457058
TCintronicDe novo--Yuen2017 G
LHFPL3     2-1166-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
LHFPL3     AU2569303chr7:
104055158-104055158
GAintronicDe novo--Yuen2017 G
LHFPL3     AU3951301chr7:
104164969-104164969
CGintronicDe novo--Yuen2017 G
LHFPL3     1-0344-003chr7:
104184345-104184345
CTintronicDe novo--Yuen2017 G
LHFPL3     AU3881302chr7:
104409470-104409470
TCintronicDe novo--Yuen2017 G
LHFPL3     1-0141-003chr7:
104006243-104006243
AATintronicDe novo--Yuen2017 G
LHFPL3     1-0344-003chr7:
104469308-104469308
CGintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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 notesView
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