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Results for "CCDC178"

Variant Events: 60

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     1-0380-003chr18:
30665075-30665075
TCintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     1-0384-003chr18:
30691758-30691758
TCintronicDe novo--Yuen2017 G
CCDC178     1-0158-012chr18:
30738959-30738959
CTintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     1-0303-004chr18:
30773391-30773391
TAintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     2-0063-005chr18:
30931012-30931012
CAintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     AU3729301 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CCDC178     AU2192301chr18:
30577568-30577568
AATGintronicDe novo--Trost2022 G
CCDC178     5-5180-003chr18:
30586762-30586762
AGintronicDe novo--Trost2022 G
CCDC178     2-1519-003chr18:
30550830-30550830
CTintronicDe novo--Trost2022 G
CCDC178     2-1430-003Achr18:
30554678-30554678
TCintronicDe novo--Trost2022 G
CCDC178     A11chr18:
30525688-30525688
GTintronicDe novo--Wu2018 G
CCDC178     MSSNG00362-004chr18:
30520303-30520308
ACTTTTAintronicDe novo--Trost2022 G
CCDC178     MSSNG00388-003chr18:
30827463-30827463
GTintronicDe novo--Trost2022 G
CCDC178     2-1090-003chr18:
30845689-30845689
AGintronicDe novo--Trost2022 G
CCDC178     2-1430-003chr18:
30554678-30554678
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CCDC178     REACH000636chr18:
30760389-30760389
TCintronicDe novo--Trost2022 G
CCDC178     3-0052-000chr18:
30799390-30799390
GAintronicDe novo--Trost2022 G
CCDC178     5-0053-003chr18:
30738298-30738298
CTintronicDe novo--Trost2022 G
CCDC178     5-5186-003chr18:
30751360-30751360
TCintronicDe novo--Trost2022 G
CCDC178     3-0253-000chr18:
30672518-30672518
ACintronicDe novo--Trost2022 G
CCDC178     3-0866-000chr18:
30673695-30673695
TCintronicDe novo--Trost2022 G
CCDC178     2-1723-003chr18:
30964221-30964222
TGAAintronicDe novo--Trost2022 G
CCDC178     AU1725306chr18:
30779641-30779641
TAintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     5-0119-003chr18:
30964744-30964744
CTintronicDe novo--Trost2022 G
CCDC178     MSSNG00103-004chr18:
30933525-30933525
TCintronicDe novo--Trost2022 G
CCDC178     REACH000537chr18:
30951041-30951041
GAintronicDe novo--Trost2022 G
CCDC178     60-2027chr18:
31100191-31100191
AGintergenicDe novo--Michaelson2012 G
CCDC178     MSSNG00227-003chr18:
30883265-30883265
CAintronicDe novo--Trost2022 G
CCDC178     2-1535-003chr18:
30898407-30898407
CAAintronicDe novo--Trost2022 G
CCDC178     AU006804chr18:
30642057-30642057
ATintronicDe 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     4-0062-003chr18:
30848848-30848849
TTAAintronicDe novo--Trost2022 G
CCDC178     MSSNG00054-004chr18:
30863825-30863825
CGintronicDe novo--Trost2022 G
CCDC178     2-1398-004chr18:
31089391-31089391
ATintergenicDe novo--Yuen2017 G
CCDC178     MT_25.3chr18:
31021630-31021630
AGupstreamDe novo--Trost2022 G
CCDC178     REACH000252chr18:
31001851-31001851
TGintronicDe novo--Trost2022 G
CCDC178     AU2817301chr18:
31011386-31011386
CTintronicDe novo--Trost2022 G
CCDC178     MSSNG00005-004chr18:
30966354-30966354
CAintronicDe novo--Trost2022 G
CCDC178     7-0049-003chr18:
30979120-30979120
CTintronicDe novo--Trost2022 G
CCDC178     AU011021chr18:
31008317-31008317
CTintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     7-0024-003chr18:
30689844-30689845
ATAintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     1-0139-005chr18:
30624612-30624612
CTintronicDe novo--Yuen2017 G
CCDC178     1-0289-004chr18:
30774942-30774942
GAintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     1-0339-003chr18:
30540445-30540445
GAintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     5-0055-003chr18:
30543006-30543007
CACintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     mAGRE2967chr18:
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-5Cirnigliaro2023 G
CCDC178     1-0113-003chr18:
30857129-30857130
TCTintronicDe novo--Yuen2016 G
CCDC178     SP0116427chr18:
30903450-30903450
CAintronic--Zhou2022 GE
CCDC178     AU4487302chr18:
30664494-30664494
CTintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     mAGRE5676chr18:
30554568-30554570
CCTCexonicMaternalframeshift deletionNM_001105528
NM_198995
NM_001308126
c.2464_2465del
c.2350_2351del
c.2536_2537del
p.R822fs
p.R784fs
p.R846fs
-9.094E-5Cirnigliaro2023 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     SP0119770chr18:
30825292-30825292
GAexonicDe novononsynonymous SNVNM_001105528
NM_001308126
NM_198995
c.C1510T
c.C1510T
c.C1510T
p.R504C
p.R504C
p.R504C
7.2172.527E-5Fu2022 E
Trost2022 G
Zhou2022 GE
CCDC178     AU072904chr18:
31089322-31089322
ATintergenicDe novo--Yuen2017 G
CCDC178     5-0088-003chr18:
30756753-30756753
TAintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     AU3399302chr18:
31039262-31039262
TCintergenicDe novo--Yuen2017 G
CCDC178     AU1795303chr18:
30609169-30609169
TGintronicDe novo--Trost2022 G
Yuen2017 G
CCDC178     AU3839303chr18:
30728068-30728068
ATintronicDe novo--Trost2022 G
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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