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Results for "GALNT18"

Variant Events: 36

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
GALNT18     AU3727302chr11:
11224112-11224112
CTintergenicDe novo--Yuen2017 G
GALNT18     2-1444-003chr11:
10932634-10932634
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
GALNT18     13874.p1chr11:
11062178-11062178
GAintergenicDe novo--Turner2016 G
GALNT18     14482.p1chr11:
11291408-11291408
ACintergenicDe novo--Turner2016 G
GALNT18     1-0067-005chr11:
11315475-11315489
AATTTCCATGCACACAintronicDe novo--Yuen2017 G
GALNT18     1-0465-003chr11:
11668053-11668053
ATintergenicDe novo--Yuen2017 G
GALNT18     5-0025-004chr11:
11477608-11477608
AGintronicDe novo--Yuen2017 G
GALNT18     2-1398-003chr11:
11572621-11572621
CGintronicDe novo--Yuen2017 G
GALNT18     AU3175302chr11:
11135608-11135608
GTintergenicDe novo--Yuen2017 G
GALNT18     2-1336-003chr11:
11510778-11510778
GAintronicDe novo--Yuen2017 G
GALNT18     AU3888302chr11:
11088350-11088350
GAintergenicDe novo--Yuen2017 G
GALNT18     1-0200-004chr11:
11262797-11262797
CAintergenicDe novo--Yuen2017 G
GALNT18     AU3052302chr11:
11518981-11518981
GAintronicDe novo--Yuen2017 G
GALNT18     AU073006chr11:
11006138-11006138
CAintergenicDe novo--Yuen2017 G
GALNT18     74-0355chr11:
11509604-11509604
TCintronicDe novo--Michaelson2012 G
GALNT18     1-0138-003chr11:
10975863-10975876
CAGAATTTATGGAGCintergenicDe novo--Yuen2017 G
GALNT18     2-0319-003chr11:
11510115-11510115
CAintronicDe novo--Yuen2017 G
GALNT18     2-0295-003chr11:
11107603-11107603
GAintergenicDe novo--Yuen2017 G
GALNT18     215-13003-43chr11:
11292818-11292818
CTexonicUnknownnonsynonymous SNVNM_198516c.G1697Ap.R566H17.428.248E-6Stessman2017 T
GALNT18     1-0338-005chr11:
11557405-11557405
AACAGTintronicDe novo--Yuen2017 G
GALNT18     2-0208-003chr11:
11280438-11280438
GAintergenicDe novo--Yuen2017 G
GALNT18     1-0201-004chr11:
11271367-11271374
CGCCAAAGCintergenicDe novo--Yuen2017 G
GALNT18     13548.p1 Complex Event; expand row to view variants  De novoframeshift deletion, nonframeshift substitutionNM_198516
NM_198516
NM_198516
NM_198516
c.1566_1573del
c.1563delC
c.1562delC
c.1563_1573AC
p.T522fs
p.P521fs
p.P521fs
N/A
--Dong2014 E
Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
GALNT18     1-0067-004chr11:
11315475-11315489
AATTTCCATGCACACAintronicDe novo--Yuen2017 G
GALNT18     1-0465-003achr11:
11668053-11668053
ATintergenicDe novo--Yuen2017 G
GALNT18     AU3076302chr11:
11492391-11492391
TCintronicDe novo--Yuen2017 G
GALNT18     1-0196-005chr11:
11055276-11055276
TAintergenicDe novo--Yuen2017 G
GALNT18     1-0627-007chr11:
11503903-11503903
TGintronicDe novo--Yuen2017 G
GALNT18     AU069603chr11:
11162445-11162452
GAACAACAGAACAintergenicDe novo--Yuen2017 G
GALNT18     2-1142-003chr11:
11017468-11017468
AGintergenicDe novo--Yuen2017 G
GALNT18     2-1428-003chr11:
11093865-11093865
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
GALNT18     AU051Achr11:
11394085-11394085
CTexonicDe novononsynonymous SNVNM_198516c.G1069Ap.E357K26.11.651E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
GALNT18     1-0338-003chr11:
11557405-11557405
AACAGTintronicDe novo--Yuen2017 G
GALNT18     1-0201-005chr11:
11271367-11271374
CGCCAAAGCintergenicDe novo--Yuen2017 G
GALNT18     1-0404-003chr11:
10976236-10976236
CTintergenicDe novo--Yuen2017 G
GALNT18     2-1502-003chr11:
11342036-11342036
AGintronicDe novo--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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