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Results for "PRTG"

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
PRTG     7-0368-003chr15:
56019676-56019676
ACintronicDe novo--Trost2022 G
PRTG     3-0847-000chr15:
56019683-56019683
AGintronicDe novo--Trost2022 G
PRTG     5-5149-003chr15:
55932210-55932210
GAintronicDe novo--Trost2022 G
PRTG     3-0392-000chr15:
56006198-56006198
GAintronicDe novo--Trost2022 G
PRTG     2-1094-004chr15:
56064973-56064973
GCintergenicDe novo--Yuen2017 G
PRTG     2-1255-003chr15:
55994629-55994629
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PRTG     SP0183852chr15:
55929455-55929455
GAexonicDe novononsynonymous SNVNM_173814c.C2536Tp.P846S14.88-Trost2022 G
PRTG     1-0265-004chr15:
56001420-56001420
AATTTCintronicDe novo--Yuen2017 G
PRTG     Chen2021:78chr15:
55912307-55912307
CAexonicMaternalnonsynonymous SNVNM_173814c.G3356Tp.G1119V17.864.0E-4Chen2021 GET
PRTG     AGG0091chr15:
55976069-55976069
CTexonicDe novononsynonymous SNVNM_173814c.G458Ap.R153Q34.08.33E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PRTG     Chen2021:18chr15:
55974592-55974592
TAexonicDe novononsynonymous SNVNM_173814c.A646Tp.S216C17.75-Chen2021 GET
PRTG     1-0563-004chr15:
55941874-55941874
CTintronicDe novo--Trost2022 G
Yuen2017 G
PRTG     AU4007301chr15:
55917991-55917991
TCintronicDe novo--Trost2022 G
Yuen2017 G
PRTG     Chen2021:78chr15:
55974597-55974597
CTexonicPaternalnonsynonymous SNVNM_173814c.G641Ap.R214H13.05-Chen2021 GET
PRTG     7-0077-003chr15:
56110370-56110370
ACintergenicDe novo--Yuen2017 G
PRTG     7-0255-003chr15:
55964968-55964968
TCintronicDe novo--Trost2022 G
Yuen2017 G
PRTG     AU3786301chr15:
56098686-56098686
CTintergenicDe novo--Yuen2017 G
PRTG     SP0041950chr15:
56035119-56035119
GAexonicDe novononsynonymous SNVNM_173814c.C11Tp.P4L13.17-Fu2022 E
Trost2022 G
Zhou2022 GE
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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