or
or
Exact

Results for "PAPLN"

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
PAPLN     SP0009866chr14:
73711448-73711448
CTexonicDe novononsynonymous SNVNM_173462c.C151Tp.R51C18.622.0E-4Fu2022 E
PAPLN     SP0038793chr14:
73730651-73730651
TCintronicDe novo--Fu2022 E
PAPLN     SP0044848chr14:
73718816-73718816
TCexonicDe novononsynonymous SNVNM_173462c.T853Cp.S285P21.4-Fu2022 E
PAPLN     200675453@1082034446chr14:
73729315-73729315
GAexonicDe novononsynonymous SNVNM_173462c.G2422Ap.E808K9.0718.0E-4Satterstrom2020 E
PAPLN     1-0465-003achr14:
73721240-73721240
TCexonicDe novononsynonymous SNVNM_173462c.T1241Cp.V414A0.7058.253E-6Yuen2017 G
PAPLN     NDAR_INVZR218GJA_wes1chr14:
73718718-73718718
CAintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
PAPLN     200675453_1082034446chr14:
73729315-73729315
GAexonicDe novononsynonymous SNVNM_173462c.G2422Ap.E808K9.0718.0E-4Fu2022 E
PAPLN     Chen2017:46chr14:
73729315-73729315
GAexonicDe novononsynonymous SNVNM_173462c.G2422Ap.E808K9.0718.0E-4Chen2017 E
PAPLN     1-0465-003chr14:
73721240-73721240
TCexonicDe novononsynonymous SNVNM_173462c.T1241Cp.V414A0.7058.253E-6Yuen2017 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 notesView
More