or
or
Exact

Results for "C19orf57"

Variant Events: 7

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
C19orf57     Cukier2014:37674chr19:
13993709-13993709
CTexonicUnknownnonsynonymous SNVNM_024323c.G1820Ap.R607Q14.820.0046Cukier2014 E
C19orf57     72-0745chr19:
14001149-14001149
GAexonicInheritedstopgainNM_024323c.C520Tp.Q174X14.65-Patowary2019 E
C19orf57     iHART2023chr19:
14016870-14016870
AGsplicingPaternalsplicing--Ruzzo2019 G
C19orf57     SP0040277chr19:
13999931-13999931
GAintronicDe novo--Fu2022 E
C19orf57     iHART2027chr19:
14016870-14016870
AGsplicingPaternalsplicing--Ruzzo2019 G
C19orf57     SP0142915chr19:
14000242-14000242
GAexonicDe novononsynonymous SNVNM_024323c.C1427Tp.S476F14.27-Fu2022 E
C19orf57     13515.p1chr19:
14012441-14012441
GAintronicDe novo--Turner2016 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