Variant Results

or

or

Results for "PHF21A"

Variant Events: 17

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.p1

chr11:
45999278-45999278

G

C

intronic

De novo

-

-

Wilfert2021 G

PHF21A

11339.p1

chr11:
45971023-45971024

CT

C

exonic

De novo

frameshift deletion

NM_001101802
NM_016621

c.1153delA
c.1156delA

p.S385fs
p.S386fs

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PHF21A

SP0080084

chr11:
45955605-45955606

CA

C

exonic

De novo

frameshift deletion

NM_001101802
NM_016621

c.1956delT
c.1818delT

p.P652fs
p.P606fs

-

-

Antaki2022 GE
Fu2022 E

PHF21A

12467.p1

chr11:
45987069-45987069

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001101802
NM_016621

c.G790A
c.G793A

p.V264I
p.V265I

29.2

-

Dou2017 E

PHF21A

SP0041151

chr11:
45971754-45971755

TA

T

splicing

De novo

splicing

-

-

Fu2022 E

PHF21A

1-0045-003

chr11:
46172723-46172723

A

G

intergenic

De novo

-

-

Yuen2017 G

PHF21A

08C78533

chr11:
45987018-45987019

TG

T

exonic

De novo

frameshift deletion

NM_001101802
NM_016621

c.840delC
c.843delC

p.S280fs
p.S281fs

-

-

Fu2022 E
Satterstrom2020 E

PHF21A

1-0385-003

chr11:
46104121-46104121

C

A

intronic

De novo

-

-

Yuen2017 G

PHF21A

2-1196-003

chr11:
46164555-46164555

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

PHF21A

SSC00648

chr11:
45971023-45971024

CT

C

exonic

frameshift deletion

NM_001101802
NM_016621

c.1153delA
c.1156delA

p.S385fs
p.S386fs

-

-

Antaki2022 GE

PHF21A

SP0012890

chr11:
45971009-45971009

G

A

exonic

stopgain

NM_001101802
NM_016621

c.C1168T
c.C1171T

p.R390X
p.R391X

43.0

-

Antaki2022 GE

PHF21A

iHART2569

chr11:
46105854-46105854

C

T

splicing

Paternal

splicing

-

-

Ruzzo2019 G

PHF21A

Mahjani2021:21

chr11:
45970496-45970496

C

G

exonic

nonsynonymous SNV

NM_001101802
NM_016621

c.G1226C
c.G1229C

p.R409P
p.R410P

27.5

-

Mahjani2021 E

PHF21A

2-0006-004

chr11:
46015389-46015389

C

T

intronic

De novo

-

-

Yuen2017 G

PHF21A

3-0439-000

chr11:
45973540-45973540

T

C

intronic

De novo

-

-

Yuen2016 G

PHF21A

AU024606

chr11:
46152890-46152890

A

T

intergenic

De novo

-

-

Yuen2017 G

PHF21A

68559

chr11:
45971023-45971024

CT

C

exonic

De novo

frameshift deletion

NM_001101802
NM_016621

c.1153delA
c.1156delA

p.S385fs
p.S386fs

-

-

Fu2022 E

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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