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Results for "PHF21A"

Variant Events: 12

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
PHF21A     13143.p1chr11:
45999278-45999278
GCintronicDe novo--Wilfert2021 G
PHF21A     1-0385-003chr11:
46104121-46104121
CAintronicDe novo--Yuen2017 G
PHF21A     2-1196-003chr11:
46164555-46164555
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PHF21A     11339.p1chr11:
45971023-45971024
CTCexonicDe novoframeshift deletionNM_001101802
NM_016621
c.1153delA
c.1156delA
p.S385fs
p.S386fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PHF21A     iHART2569chr11:
46105854-46105854
CTsplicingPaternalsplicing--Ruzzo2019 G
PHF21A     Mahjani2021:21chr11:
45970496-45970496
CGexonicnonsynonymous SNVNM_001101802
NM_016621
c.G1226C
c.G1229C
p.R409P
p.R410P
27.5-Mahjani2021 E
PHF21A     2-0006-004chr11:
46015389-46015389
CTintronicDe novo--Yuen2017 G
PHF21A     3-0439-000chr11:
45973540-45973540
TCintronicDe novo--Yuen2016 G
PHF21A     AU024606chr11:
46152890-46152890
ATintergenicDe novo--Yuen2017 G
PHF21A     12467.p1chr11:
45987069-45987069
CTexonicMosaicnonsynonymous SNVNM_001101802
NM_016621
c.G790A
c.G793A
p.V264I
p.V265I
29.2-Dou2017 E
PHF21A     1-0045-003chr11:
46172723-46172723
AGintergenicDe novo--Yuen2017 G
PHF21A     08C78533chr11:
45987018-45987019
TGTexonicDe novoframeshift deletionNM_001101802
NM_016621
c.840delC
c.843delC
p.S280fs
p.S281fs
--Satterstrom2020 E
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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