or
or
Exact

Results for "CCDC129"

Variant Events: 12

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
CCDC129     1-0512-003chr7:
31615768-31615768
CTintronicDe novo--Yuen2017 G
CCDC129     iHART3292chr7:
31611801-31611802
AGAexonicMaternalframeshift deletionNM_194300
NM_001257968
NM_001257967
c.395delG
c.473delG
c.425delG
p.S132fs
p.S158fs
p.S142fs
--Ruzzo2019 G
CCDC129     iHART3290chr7:
31611801-31611802
AGAexonicMaternalframeshift deletionNM_194300
NM_001257968
NM_001257967
c.395delG
c.473delG
c.425delG
p.S132fs
p.S158fs
p.S142fs
--Ruzzo2019 G
CCDC129     1-0744-003chr7:
31628417-31628417
CGintronicDe novo--Yuen2017 G
CCDC129     1-0978-003chr7:
31702955-31702955
AGintergenicDe novo--Yuen2017 G
CCDC129     2-1722-003chr7:
31662627-31662627
ATintronicDe novo--Yuen2017 G
CCDC129     AU1668302chr7:
31707737-31707737
AGintergenicDe novo--Yuen2017 G
CCDC129     11194.p1chr7:
31659432-31659432
GTintronicDe novo--Turner2016 G
CCDC129     AU2569301chr7:
31586669-31586669
CTintronicDe novo--Yuen2017 G
CCDC129     12698.p1chr7:
31691581-31691581
CTexonicDe novononsynonymous SNVNM_194300
NM_001257968
NM_001257967
c.C2740T
c.C2818T
c.C2770T
p.R914C
p.R940C
p.R924C
14.990.0017Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
CCDC129     2-1261-004chr7:
31572467-31572474
AATTTCACAintronicDe novo--Yuen2017 G
CCDC129     iHART2542chr7:
31617485-31617485
CTexonicPaternalstopgainNM_194300
NM_001257968
NM_001257967
c.C607T
c.C685T
c.C637T
p.R203X
p.R229X
p.R213X
46.09.894E-6Ruzzo2019 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