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Results for "PHLDB1"

Variant Events: 4

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
PHLDB1     MT_109chr11:
118518737-118518737
GAexonicMaternalnonsynonymous SNVNM_001144759
NM_001144758
NM_015157
c.G3458A
c.G3599A
c.G3599A
p.R1153Q
p.R1200Q
p.R1200Q
13.325.145E-5Toma2013 E
PHLDB1     AGG0064chr11:
118527525-118527525
AGexonicDe novononsynonymous SNVNM_001144759
NM_001144758
NM_015157
c.A3952G
c.A4126G
c.A4126G
p.M1318V
p.M1376V
p.M1376V
17.2-Satterstrom2020 E
PHLDB1     1-0572-003chr11:
118520692-118520692
GCintronicDe novo--Yuen2017 G
PHLDB1     iHART2141chr11:
118498902-118498902
CTexonicPaternalstopgainNM_001144758
NM_001144759
NM_015157
c.C1363T
c.C1363T
c.C1363T
p.R455X
p.R455X
p.R455X
41.0-Ruzzo2019 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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