or
or
Exact

Results for "PYHIN1"

Variant Events: 9

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     14300.p1chr1:
158906752-158906752
AGexonicDe novononsynonymous SNVNM_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     1-0144-004chr1:
158934366-158934366
CTintronicDe novo--Yuen2017 G
PYHIN1     1-0121-003chr1:
158927226-158927226
GAintronicDe novo--Yuen2017 G
PYHIN1     1-0218-003chr1:
158909751-158909751
CTintronicDe novo--Yuen2017 G
PYHIN1     DEASD_0302_001chr1:
158913694-158913694
CTexonicDe novostopgainNM_152501
NM_198928
NM_198929
NM_198930
c.C1117T
c.C1090T
c.C1117T
c.C1090T
p.R373X
p.R364X
p.R373X
p.R364X
21.13.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
PYHIN1     13398.p1chr1:
158912155-158912155
GAexonicDe novononsynonymous SNVNM_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
PYHIN1     SSC07646chr1:
158912155-158912155
GAexonicDe novononsynonymous SNVNM_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-Lim2017 E
PYHIN1     200675370@1082034608chr1:
158914629-158914629
TAintronicDe novo--Satterstrom2020 E
PYHIN1     SSC11302chr1:
158906752-158906752
AGexonicDe novononsynonymous SNVNM_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
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 notesView
More