or
or
Exact

Results for "ZNF592"

Variant Events: 13

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
ZNF592     PN400179chr15:
85342065-85342065
CTexonicUnknownnonsynonymous SNVNM_014630c.C2983Tp.R995W18.059.012E-6Leblond2019 E
ZNF592     PN400352chr15:
85342065-85342065
CTexonicUnknownnonsynonymous SNVNM_014630c.C2983Tp.R995W18.059.012E-6Leblond2019 E
ZNF592     PN400412chr15:
85342065-85342065
CTexonicUnknownnonsynonymous SNVNM_014630c.C2983Tp.R995W18.059.012E-6Leblond2019 E
ZNF592     PN400523chr15:
85342065-85342065
CTexonicUnknownnonsynonymous SNVNM_014630c.C2983Tp.R995W18.059.012E-6Leblond2019 E
ZNF592     AU063005chr15:
85305253-85305253
TCintronicDe novo--Yuen2017 G
ZNF592     AU2000305chr15:
85338125-85338125
TAintronicDe novo--Yuen2017 G
ZNF592     AU1795302chr15:
85329771-85329771
GAintronicDe novo--Yuen2017 G
ZNF592     13850.p1chr15:
85342477-85342477
GAintronicDe novo--Satterstrom2020 E
ZNF592     2-0145-004chr15:
85296437-85296437
AGintronicDe novo--Yuen2017 G
ZNF592     2-0145-004chr15:
85295145-85295145
AGintronicDe novo--Yuen2017 G
ZNF592     2-1581-003chr15:
85336527-85336527
CGintronicDe novo--Yuen2017 G
ZNF592     PN400241chr15:
85327103-85327103
TGexonicDe novononsynonymous SNVNM_014630c.T1197Gp.D399E13.758.244E-6Leblond2019 E
ZNF592     PN400455chr15:
85342065-85342065
CTexonicUnknownnonsynonymous SNVNM_014630c.C2983Tp.R995W18.059.012E-6Leblond2019 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