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Results for "ARL6IP6"

Variant Events: 48

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
ARL6IP6     1-0403-004chr2:
153932818-153932818
AGintergenicDe novo--Yuen2017 G
ARL6IP6     AU2988302chr2:
154018864-154018864
CTintergenicDe novo--Yuen2017 G
ARL6IP6     3-0482-000chr2:
154019013-154019013
CTintergenicDe novo--Yuen2017 G
ARL6IP6     AU071203chr2:
153855808-153855808
GAintergenicDe novo--Yuen2017 G
ARL6IP6     1-0481-003chr2:
153977541-153977541
GTintergenicDe novo--Yuen2017 G
ARL6IP6     2-0011-004chr2:
153594417-153594417
CGintronicDe novo--Yuen2017 G
ARL6IP6     2-0012-004chr2:
153601180-153601184
TATCATintronicDe novo--Yuen2017 G
ARL6IP6     AU3645301chr2:
154142013-154142013
AGintergenicDe novo--Yuen2017 G
ARL6IP6     2-1408-003chr2:
153967534-153967534
CTintergenicDe novo--Yuen2017 G
ARL6IP6     2-1619-003chr2:
153997617-153997617
GGGGGAAGTintergenicDe novo--Yuen2017 G
ARL6IP6     2-1619-003chr2:
153821035-153821040
TATTGATintergenicDe novo--Yuen2017 G
ARL6IP6     AU2988303chr2:
154018864-154018864
CTintergenicDe novo--Yuen2017 G
ARL6IP6     2-0210-005chr2:
153878722-153878722
TCintergenicDe novo--Yuen2017 G
ARL6IP6     2-1306-004chr2:
153703550-153703550
AGintergenicDe novo--Yuen2017 G
ARL6IP6     AU3888302chr2:
154188258-154188258
CGintergenicDe novo--Yuen2017 G
ARL6IP6     2-1261-003chr2:
153814847-153814847
TCintergenicDe novo--Yuen2017 G
ARL6IP6     2-1290-004chr2:
154197144-154197144
GAintergenicDe novo--Yuen2017 G
ARL6IP6     2-1327-004chr2:
153997617-153997617
GGGGGAAGTintergenicDe novo--Yuen2017 G
ARL6IP6     AU2863303chr2:
153735662-153735662
GAintergenicDe novo--Yuen2017 G
ARL6IP6     AU3787303chr2:
153901227-153901227
CGintergenicDe novo--Yuen2017 G
ARL6IP6     1-0253-004chr2:
153997617-153997617
GGGGGAAGTintergenicDe novo--Yuen2017 G
ARL6IP6     2-1379-003chr2:
153575211-153575211
CGexonicDe novononsynonymous SNVNM_152522c.C73Gp.R25G13.07-Jiang2013 G
Yuen2016 G
ARL6IP6     1-0255-003chr2:
154239273-154239273
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
ARL6IP6     2-1169-003chr2:
153914211-153914211
GAintergenicDe novo--Yuen2017 G
ARL6IP6     200675351@1082034715chr2:
153575096-153575096
TGUTR5De novo-7.0E-4Satterstrom2020 E
ARL6IP6     AU4069302chr2:
153764442-153764442
AGintergenicDe novo--Yuen2017 G
ARL6IP6     PN400121chr2:
153575305-153575305
GTexonicInheritednonsynonymous SNVNM_152522c.G167Tp.R56L28.10.008Leblond2019 E
ARL6IP6     AU047703chr2:
153828309-153828309
ATintergenicDe novo--Yuen2017 G
ARL6IP6     AU4310301chr2:
154189031-154189031
CTintergenicDe novo--Yuen2017 G
ARL6IP6     1-0675-003chr2:
153642780-153642780
TCintergenicDe novo--Yuen2017 G
ARL6IP6     AU3782303chr2:
153913955-153913955
GAintergenicDe novo--Yuen2017 G
ARL6IP6     AU4487302chr2:
153668049-153668049
GAintergenicDe novo--Yuen2017 G
ARL6IP6     2-1306-003chr2:
153703550-153703550
AGintergenicDe novo--Yuen2017 G
ARL6IP6     14590.p1chr2:
153695006-153695006
CTintergenicDe novo--Turner2016 G
ARL6IP6     1-0203-003chr2:
153594327-153594327
GGGGGCACAGCCAAACATintronicDe novo--Yuen2017 G
ARL6IP6     2-1275-003chr2:
154061566-154061566
GAintergenicDe novo--Yuen2017 G
ARL6IP6     2-1452-003chr2:
154317724-154317727
TGTATintergenicDe novo--Yuen2016 G
ARL6IP6     7-0100-004chr2:
154086472-154086472
CGintergenicDe novo--Yuen2017 G
ARL6IP6     AU2123301chr2:
153589271-153589271
GAintronicDe novo--Yuen2017 G
ARL6IP6     1-0507-003chr2:
153805634-153805634
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
ARL6IP6     3-0436-000chr2:
154257745-154257745
CTintergenicDe novo--Yuen2017 G
ARL6IP6     2-0012-003chr2:
153601180-153601184
TATCATintronicDe novo--Yuen2017 G
ARL6IP6     AU2156303chr2:
153581461-153581461
TGintronicDe novo--Yuen2017 G
ARL6IP6     AU4234303chr2:
153732614-153732614
TCintergenicDe novo--Yuen2017 G
ARL6IP6     SP0066412chr2:
153575243-153575243
CTexonicDe novosynonymous SNVNM_152522c.C105Tp.D35D--Fu2022 E
ARL6IP6     2-1180-003chr2:
153950197-153950197
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
ARL6IP6     AU3451301chr2:
153839593-153839593
TCintergenicDe novo--Yuen2017 G
ARL6IP6     iHART3295chr2:
153591575-153591579
GACTTGexonicMaternalframeshift deletionNM_152522c.523_526delp.T175fs-2.472E-5Ruzzo2019 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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