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Results for "HDGFL2"

Variant Events: 6

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
HDGFL2     3918_16auchr19:
4502052-4502052
CTUTR3De novo--Satterstrom2020 E
HDGFL2     Lim2017:5329chr19:
4475539-4475539
GAexonicDe novononsynonymous SNVNM_001001520
NM_032631
c.G247A
c.G247A
p.E83K
p.E83K
34.0-Lim2017 E
HDGFL2     1-0375-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
HDGFL2     AU017304chr19:
4499857-4499857
CTintronicDe novo--Yuen2017 G
HDGFL2     11184.p1chr19:
4475539-4475539
GAexonicDe novononsynonymous SNVNM_001001520
NM_032631
c.G247A
c.G247A
p.E83K
p.E83K
34.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
HDGFL2     7-0253-005chr19:
4498731-4498731
TCintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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