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Results for "ARHGEF9"

Variant Events: 9

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
ARHGEF9     B0772chrX:
62898438-62898438
CTexonicMaternalstopgainNM_001173479
NM_001173480
NM_015185
c.G417A
c.G270A
c.G576A
p.W139X
p.W90X
p.W192X
46.0-Xiong2019 ET
ARHGEF9     3C579chrX:
62926208-62926208
CTexonicDe novononsynonymous SNVNM_001173479
NM_001173480
NM_015185
c.G152A
c.G5A
c.G311A
p.R51Q
p.R2Q
p.R104Q
35.0-Satterstrom2020 E
ARHGEF9     B0543chrX:
62917056-62917056
ATexonicMaternalstopgainNM_001173479
NM_001173480
NM_015185
c.T351A
c.T204A
c.T510A
p.Y117X
p.Y68X
p.Y170X
40.0-Xiong2019 ET
ARHGEF9     1-0923-003chrX:
62909684-62909684
GCintronicDe novo--Yuen2017 G
ARHGEF9     DEASD_0113_001chrX:
62885898-62885898
CAsplicingDe novosplicing17.36-Satterstrom2020 E
ARHGEF9     Chen2021:35chrX:
62917056-62917056
ATexonicMaternalstopgainNM_001173479
NM_001173480
NM_015185
c.T351A
c.T204A
c.T510A
p.Y117X
p.Y68X
p.Y170X
40.0-Chen2021 GET
ARHGEF9     Chen2021:34chrX:
62898438-62898438
CTexonicMaternalstopgainNM_001173479
NM_001173480
NM_015185
c.G417A
c.G270A
c.G576A
p.W139X
p.W90X
p.W192X
46.0-Chen2021 GET
ARHGEF9     Mahjani2021:123chrX:
62893941-62893941
GAexonicstopgainNM_001173479
NM_001173480
NM_015185
c.C742T
c.C595T
c.C901T
p.Q248X
p.Q199X
p.Q301X
47.0-Mahjani2021 E
ARHGEF9     DEASD_1023_001chrX:
62944463-62944463
CTexonicDe novostopgainNM_015185c.G138Ap.W46X40.0-Satterstrom2020 E
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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