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Results for "CDC42"

Variant Events: 8

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
CDC42     1-0669-003chr1:
22404979-22404979
CTexonicDe novononsynonymous SNVNM_001791
NM_044472
NM_001039802
c.C8T
c.C8T
c.C8T
p.T3I
p.T3I
p.T3I
25.4-Trost2022 G
Yuen2017 G
Zhou2022 GE
CDC42     REACH000341chr1:
22414520-22414520
CTintronicDe novo--Trost2022 G
CDC42     AU2410302chr1:
22411774-22411774
AGintronicDe novo--Trost2022 G
Yuen2017 G
CDC42     AU2441301chr1:
22408593-22408593
GCintronicDe novo--Trost2022 G
CDC42     1-0563-004chr1:
22391477-22391481
TTGCCTintronicDe novo--Yuen2017 G
CDC42     SP0063809chr1:
22418007-22418007
AGexonicsynonymous SNVNM_001791
NM_001039802
c.A573G
c.A573G
p.L191L
p.L191L
-8.314E-6Zhou2022 GE
CDC42     5-0030-003chr1:
22401515-22401515
AGintronicDe novo--Trost2022 G
Yuen2017 G
CDC42     2-0043-003chr1:
22441326-22441326
CTintergenicDe novo--Yuen2016 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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