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Results for "PARN"

Variant Events: 18

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
PARN     7-0141-003chr16:
14649782-14649782
GCintronicDe novo--Yuen2017 G
PARN     AU4033305chr16:
14635373-14635373
CAintronicDe novo--Yuen2017 G
PARN     7-0222-003chr16:
14701701-14701701
GAintronicDe novo--Yuen2017 G
PARN     Marques2022:86chr16:
14723475-14723475
CTexonicnonsynonymous SNVNM_001242992
NM_002582
c.G76A
c.G76A
p.A26T
p.A26T
24.91.658E-5Marques2022 ET
PARN     Marques2022:85chr16:
14704500-14704500
CTsplicingsplicing20.8-Marques2022 ET
PARN     1-0354-003chr16:
14569192-14569205
CCTATTAGTGAGATCintronicDe novo--Yuen2017 G
PARN     Marques2022:82chr16:
14576552-14576552
CGexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582
c.G1475C
c.G1430C
c.G1613C
p.R492P
p.R477P
p.R538P
19.548.292E-5Marques2022 ET
PARN     Marques2022:81chr16:
14576541-14576541
GAexonicstopgainNM_001242992
NM_001134477
NM_002582
c.C1486T
c.C1441T
c.C1624T
p.Q496X
p.Q481X
p.Q542X
21.6-Marques2022 ET
PARN     Marques2022:84chr16:
14700381-14700381
TCexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582
c.A524G
c.A479G
c.A662G
p.Y175C
p.Y160C
p.Y221C
17.31.959E-5Marques2022 ET
PARN     Marques2022:83chr16:
14676079-14676079
TCexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582
c.A1013G
c.A968G
c.A1151G
p.Y338C
p.Y323C
p.Y384C
18.632.484E-5Marques2022 ET
PARN     NDAR_INVJG302HJQ_wes1chr16:
14723490-14723490
CTexonicDe novononsynonymous SNVNM_001242992
NM_002582
c.G61A
c.G61A
p.E21K
p.E21K
27.9-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PARN     1-0354-006chr16:
14569192-14569205
CCTATTAGTGAGATCintronicDe novo--Yuen2017 G
PARN     AU3885305chr16:
14620666-14620666
CAintronicDe novo--Yuen2017 G
PARN     2-1626-003chr16:
14562912-14562912
TGintronicDe novo--Yuen2017 G
PARN     A17chr16:
14597544-14597544
GAintronicDe novo--Wu2018 G
PARN     2-1206-003chr16:
14621733-14621733
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PARN     11431.p1chr16:
14721194-14721195
CTCsplicingDe novosplicing--Wilfert2021 G
PARN     2-1194-003chr16:
14625495-14625495
GCintronicDe novo--Yuen2016 G
Yuen2017 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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