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Results for "CCDC178"

Variant Events: 30

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
CCDC178     1-0153-005chr18:
31100255-31100255
GTintergenicDe novo--Yuen2017 G
CCDC178     7-0024-003chr18:
30689844-30689845
ATAintronicDe novo--Yuen2017 G
CCDC178     1-0139-005chr18:
30624612-30624612
CTintronicDe novo--Yuen2017 G
CCDC178     1-0380-003chr18:
30665075-30665075
TCintronicDe novo--Yuen2017 G
CCDC178     1-0384-003chr18:
30691758-30691758
TCintronicDe novo--Yuen2017 G
CCDC178     1-0289-004chr18:
30774942-30774942
GAintronicDe novo--Yuen2017 G
CCDC178     1-0158-012chr18:
30738959-30738959
CTintronicDe novo--Yuen2017 G
CCDC178     1-0339-003chr18:
30540445-30540445
GAintronicDe novo--Yuen2017 G
CCDC178     5-0055-003chr18:
30543006-30543007
CACintronicDe novo--Yuen2017 G
CCDC178     1-0303-004chr18:
30773391-30773391
TAintronicDe novo--Yuen2017 G
CCDC178     2-0063-005chr18:
30931012-30931012
CAintronicDe novo--Yuen2017 G
CCDC178     AU3729301chr18:
30641830-30641834
GAAAAGAAAAAintronicDe novo--Yuen2017 G
CCDC178     1-0113-003chr18:
30857129-30857130
TCTintronicDe novo--Yuen2016 G
CCDC178     A11chr18:
30525688-30525688
GTintronicDe novo--Wu2018 G
CCDC178     AU4487302chr18:
30664494-30664494
CTintronicDe novo--Yuen2017 G
CCDC178     2-1430-003chr18:
30554678-30554678
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CCDC178     AU4228301chr18:
30863054-30863054
TCintronicDe novo--Yuen2017 G
CCDC178     11089.p1chr18:
31046601-31046601
CTintergenicDe novo--Turner2016 G
CCDC178     2-1323-003chr18:
30712390-30712390
CTintronicDe novo--Yuen2017 G
CCDC178     AU1725306chr18:
30779641-30779641
TAintronicDe novo--Yuen2017 G
CCDC178     60-2027chr18:
31100191-31100191
AGintergenicDe novo--Michaelson2012 G
CCDC178     AU006804chr18:
30642057-30642057
ATintronicDe novo--Yuen2017 G
CCDC178     AU072904chr18:
31089322-31089322
ATintergenicDe novo--Yuen2017 G
CCDC178     iHART2967chr18:
30554568-30554570
CCTCexonicPaternalframeshift deletionNM_001105528
NM_198995
NM_001308126
c.2464_2465del
c.2350_2351del
c.2536_2537del
p.R822fs
p.R784fs
p.R846fs
-9.094E-5Ruzzo2019 G
CCDC178     2-1398-004chr18:
31089391-31089391
ATintergenicDe novo--Yuen2017 G
CCDC178     5-0088-003chr18:
30756753-30756753
TAintronicDe novo--Yuen2017 G
CCDC178     AU3399302chr18:
31039262-31039262
TCintergenicDe novo--Yuen2017 G
CCDC178     AU1795303chr18:
30609169-30609169
TGintronicDe novo--Yuen2017 G
CCDC178     AU3839303chr18:
30728068-30728068
ATintronicDe novo--Yuen2017 G
CCDC178     AU011021chr18:
31008317-31008317
CTintronicDe 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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