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Results for "CCNDBP1"

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
CCNDBP1     iHART3041chr15:
43477706-43477706
GGCexonicPaternalframeshift insertionNM_012142c.11dupCp.A4fs--Ruzzo2019 G
CCNDBP1     mAGRE5512chr15:
43483162-43483162
ACsplicingMaternalsplicing18.83-Cirnigliaro2023 G
CCNDBP1     mAGRE3041chr15:
43477706-43477706
GGCexonicPaternalframeshift insertionNM_012142c.11dupCp.A4fs--Cirnigliaro2023 G
CCNDBP1     3-0497-001chr15:
43486408-43486408
AATintronicDe novo--Trost2022 G
CCNDBP1     SP0000034chr15:
43482262-43482262
TGexonicDe novononsynonymous SNVNM_012142c.T341Gp.L114R13.72-Fu2022 E
CCNDBP1     SP0011991chr15:
43478462-43478462
TCintronicDe novo--Trost2022 G
CCNDBP1     3-0497-001chr15:
43486405-43486405
GTAAAAintronicDe novo--Trost2022 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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