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Results for "POLN"

Variant Events: 16

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
POLN     EGAN00001101036chr4:
2073633-2073633
TGdownstreamDe novo--Satterstrom2020 E
POLN     AU3605303chr4:
2103283-2103283
CGintronicDe novo--Yuen2017 G
POLN     AU4273304chr4:
2227236-2227236
GAintronicDe novo--Yuen2017 G
POLN     AU057404chr4:
2198175-2198175
ACintronicDe novo--Yuen2017 G
POLN     2-1120-003chr4:
2151532-2151532
CTintronicDe novo--Yuen2017 G
POLN     Cukier2014:7637chr4:
2195009-2195009
GAexonicUnknownnonsynonymous SNVNM_181808c.C943Tp.P315S14.020.008Cukier2014 E
POLN     2-1425-004chr4:
2119846-2119857
GTACCTTGAGTTGintronicDe novo--Yuen2017 G
POLN     iHART2308chr4:
2083396-2083396
GAexonicMaternalstopgainNM_181808c.C2272Tp.Q758X19.798.249E-6Ruzzo2019 G
POLN     iHART1531chr4:
2073900-2073901
CACexonicPaternalframeshift deletionNM_181808c.2643delTp.P881fs-6.0E-4Ruzzo2019 G
POLN     12626.p1chr4:
2129967-2129967
GAintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
POLN     iHART1995chr4:
2172830-2172830
GAexonicPaternalstopgainNM_181808c.C1453Tp.R485X16.251.648E-5Ruzzo2019 G
POLN     1-0906-003chr4:
2080708-2080709
GTGintronicDe novo--Yuen2017 G
POLN     AU3912301chr4:
2186238-2186238
CTintronicDe novo--Yuen2017 G
POLN     1-0777-003chr4:
2123693-2123693
GAintronicDe novo--Yuen2017 G
POLN     1-0435-003chr4:
2218613-2218613
CTintronicDe novo--Yuen2017 G
POLN     AU3638302chr4:
2196556-2196556
TGintronicDe novo--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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