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Results for "ARHGEF10L"

Variant Events: 29

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
ARHGEF10L     1-0568-003chr1:
17990886-17990889
CAGGCintronicDe novo--Trost2022 G
Yuen2017 G
ARHGEF10L     11989.p1chr1:
17907117-17907117
GTexonicDe novononsynonymous SNVNM_001011722
NM_018125
c.G27T
c.G27T
p.Q9H
p.Q9H
15.95-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Wilfert2021 G
Zhou2022 GE
ARHGEF10L     1-0248-003chr1:
17944984-17945003
CCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCintronicDe novo--Yuen2017 G
ARHGEF10L     SP0034444chr1:
17948388-17948388
CTexonicDe novosynonymous SNVNM_001011722
NM_018125
c.C855T
c.C972T
p.I285I
p.I324I
-3.296E-5Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
ARHGEF10L     MCD-008-3chr1:
17952490-17952490
GCexonicDe novononsynonymous SNVNM_001011722
NM_018125
c.G1240C
c.G1357C
p.G414R
p.G453R
27.4-Tuncay2023 G
ARHGEF10L     5-1006-003chr1:
17878731-17878731
GAintronicDe novo--Trost2022 G
ARHGEF10L     AU2109302chr1:
18014652-18014652
CTintronicDe novo--Trost2022 G
Yuen2017 G
ARHGEF10L     AU2137304chr1:
17912888-17912888
GAintronicDe novo--Trost2022 G
Yuen2017 G
ARHGEF10L     AU3764302chr1:
17968199-17968199
CTintronicDe novo--Yuen2017 G
ARHGEF10L     5-5014-003chr1:
17963230-17963230
GAintronicDe novo--Trost2022 G
ARHGEF10L     REACH000423chr1:
17933111-17933111
ATintronicDe novo--Trost2022 G
ARHGEF10L     2-1642-003Achr1:
17973808-17973808
TCintronicDe novo--Trost2022 G
ARHGEF10L     SP0251453chr1:
17966790-17966790
CTexonicDe novosynonymous SNVNM_001011722
NM_018125
c.C2148T
c.C2265T
p.I716I
p.I755I
-1.0E-4Trost2022 G
ARHGEF10L     1-0464-003chr1:
18065319-18065319
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ARHGEF10L     5-0030-003chr1:
17910675-17910675
GGTGTATGCTintronicDe novo--Trost2022 G
ARHGEF10L     5-0030-003chr1:
17910673-17910673
GGAintronicDe novo--Trost2022 G
ARHGEF10L     AU2415301chr1:
17923792-17923792
GAintronicDe novo--Trost2022 G
ARHGEF10L     2-1428-003chr1:
17888413-17888413
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ARHGEF10L     1-0680-003chr1:
17922235-17922235
CGintronicDe novo--Trost2022 G
ARHGEF10L     2-1591-003chr1:
17992273-17992273
GAintronicDe novo--Trost2022 G
Yuen2017 G
ARHGEF10L     7-0411-003chr1:
17994987-17994987
AGintronicDe novo--Trost2022 G
ARHGEF10L     9-0027-003chr1:
17982867-17982867
GAintronicDe novo--Trost2022 G
ARHGEF10L     REACH000327chr1:
18022638-18022638
GAintronicDe novo--Trost2022 G
ARHGEF10L     AU048206chr1:
18056089-18056089
TCintergenicDe novo--Yuen2017 G
ARHGEF10L     SP0067960chr1:
17975164-17975164
CAexonicDe novononsynonymous SNVNM_001011722
NM_018125
c.C2271A
c.C2388A
p.S757R
p.S796R
13.63-Fu2022 E
Trost2022 G
Zhou2022 GE
ARHGEF10L     2-1561-003chr1:
18008639-18008639
ATintronicDe novo--Trost2022 G
Yuen2017 G
ARHGEF10L     5905chr1:
17907117-17907117
GTexonicDe novononsynonymous SNVNM_001011722
NM_018125
c.G27T
c.G27T
p.Q9H
p.Q9H
15.95-Fu2022 E
ARHGEF10L     7-0188-003chr1:
18038457-18038457
CTintergenicDe novo--Yuen2017 G
ARHGEF10L     4916chr1:
18023403-18023403
CAexonicDe novononsynonymous SNVNM_001011722
NM_018125
c.C3251A
c.C3368A
p.T1084N
p.T1123N
12.53-Fu2022 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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