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Results for "CCDC88C"

Variant Events: 19

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
CCDC88C     13322.p1chr14:
91755418-91755418
AACintronicDe novo--Satterstrom2020 E
CCDC88C     JASD_Fam0030chr14:
91766302-91766302
CTexonicDe novononsynonymous SNVNM_001080414c.G3748Ap.E1250K35.01.907E-5Takata2018 E
CCDC88C     1-0969-003chr14:
91758185-91758185
CTintronicDe novo--Yuen2017 G
CCDC88C     AU4013302chr14:
91903083-91903083
GAintergenicDe novo--Yuen2017 G
CCDC88C     217-14225-3590chr14:
91763804-91763804
CTexonicUnknownnonsynonymous SNVNM_001080414c.G3811Ap.E1271K27.95.869E-5Stessman2017 T
CCDC88C     211-5300-3chr14:
91763807-91763807
CAexonicUnknownnonsynonymous SNVNM_001080414c.G3808Tp.G1270W14.583.076E-5Stessman2017 T
CCDC88C     11377.p1chr14:
91744403-91744403
GCexonicDe novononsynonymous SNVNM_001080414c.C4921Gp.L1641V0.035-Krumm2015 E
Wilfert2021 G
CCDC88C     2-1417-003chr14:
91887872-91887872
GAintergenicDe novo--Yuen2017 G
CCDC88C     1-0590-003chr14:
91808170-91808170
GAintronicDe novo--Yuen2017 G
CCDC88C     AU3808304chr14:
91785628-91785628
TAintronicDe novo--Yuen2017 G
CCDC88C     SSC05893chr14:
91772130-91772130
CGexonicDe novononsynonymous SNVNM_001080414c.G3336Cp.Q1112H11.64-Lim2017 E
CCDC88C     AU4234303chr14:
91866816-91866816
CTintronicDe novo--Yuen2017 G
CCDC88C     M31992chr14:
91805671-91805671
CTexonicMaternalnonsynonymous SNVNM_001080414c.G760Ap.V254I31.02.585E-5Guo2018 T
CCDC88C     GX0441.p1chr14:
91770115-91770115
TCexonicMaternalnonsynonymous SNVNM_001080414c.A3565Gp.I1189V31.0-Guo2018 T
CCDC88C     M03093chr14:
91808741-91808741
CTexonicMaternalnonsynonymous SNVNM_001080414c.G466Ap.V156M32.02.334E-5Guo2018 T
Wang2016 T
CCDC88C     12901.p1chr14:
91772130-91772130
CGexonicDe novononsynonymous SNVNM_001080414c.G3336Cp.Q1112H11.64-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
CCDC88C     M21544chr14:
91804464-91804464
CTexonicMaternalnonsynonymous SNVNM_001080414c.G935Ap.R312Q32.08.319E-6Guo2018 T
Wang2016 T
CCDC88C     PN400391chr14:
91739935-91739935
TTGexonicUnknownframeshift insertionNM_001080414c.5120dupCp.P1707fs-9.129E-6Leblond2019 E
CCDC88C     2-1107-003chr14:
91739420-91739420
CTexonicMaternalnonsynonymous SNVNM_001080414c.G5636Ap.R1879Q25.0-Yuen2016 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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