Variant Results

or

Results for "PYHIN1"

Variant Events: 11

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

PYHIN1

1-0121-003

chr1:
158927226-158927226

G

A

intronic

De novo

-

Yuen2017 G

PYHIN1

SSC07646

chr1:
158912155-158912155

G

A

exonic

De novo

nonsynonymous SNV

NM_152501
NM_198928
NM_198929
NM_198930

c.G968A
c.G941A
c.G968A
c.G941A

p.G323E
p.G314E
p.G323E
p.G314E

13.35

-

Fu2022 E
Lim2017 E
Trost2022 G

PYHIN1

SSC11302

chr1:
158906752-158906752

A

G

exonic

De novo

nonsynonymous SNV

NM_152501
NM_198928
NM_198929
NM_198930

c.A52G
c.A52G
c.A52G
c.A52G

p.N18D
p.N18D
p.N18D
p.N18D

12.15

-

Lim2017 E
Trost2022 G

PYHIN1

SP0215466

chr1:
158909031-158909031

A

T

exonic

De novo

synonymous SNV

NM_152501
NM_198928
NM_198929
NM_198930

c.A573T
c.A546T
c.A573T
c.A546T

p.S191S
p.S182S
p.S191S
p.S182S

-

Trost2022 G

PYHIN1

14300.p1

chr1:
158906752-158906752

A

G

exonic

De novo

nonsynonymous SNV

NM_152501
NM_198928
NM_198929
NM_198930

c.A52G
c.A52G
c.A52G
c.A52G

p.N18D
p.N18D
p.N18D
p.N18D

12.15

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E

PYHIN1

1-0144-004

chr1:
158934366-158934366

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PYHIN1

1-0218-003

chr1:
158909751-158909751

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PYHIN1

DEASD_0302_001

chr1:
158913694-158913694

C

T

exonic

De novo

stopgain

NM_152501
NM_198928
NM_198929
NM_198930

c.C1117T
c.C1090T
c.C1117T
c.C1090T

p.R373X
p.R364X
p.R373X
p.R364X

21.1

3.0E-4

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PYHIN1

13398.p1

chr1:
158912155-158912155

G

A

exonic

De novo

nonsynonymous SNV

NM_152501
NM_198928
NM_198929
NM_198930

c.G968A
c.G941A
c.G968A
c.G941A

p.G323E
p.G314E
p.G323E
p.G314E

13.35

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PYHIN1

200675370@1082034608

chr1:
158914629-158914629

T

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PYHIN1

2-1814-003

chr1:
158969747-158969747

T

C

intergenic

De novo

-

Trost2022 G

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
	More