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Results for "GALNTL6"

Variant Events: 66

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
GALNTL6     1-0252-003chr4:
174035594-174035594
TTAAAGAAAintergenicDe novo--Yuen2017 G
GALNTL6     1-0597-003chr4:
174022963-174022963
GAintergenicDe novo--Yuen2017 G
GALNTL6     2-0264-004chr4:
173945501-173945501
ACintronicDe novo--Yuen2017 G
GALNTL6     AU076509chr4:
173759928-173759928
CTintronicDe novo--Yuen2017 G
GALNTL6     2-0022-003chr4:
174062435-174062435
GCintergenicDe novo--Yuen2017 G
GALNTL6     AU056803chr4:
173845869-173845869
GAintronicDe novo--Yuen2017 G
GALNTL6     AU3839302chr4:
173872128-173872128
CAintronicDe novo--Yuen2017 G
GALNTL6     1-0756-004chr4:
173058336-173058336
AGintronicDe novo--Yuen2017 G
GALNTL6     2-0116-005chr4:
173485591-173485591
TCintronicDe novo--Yuen2017 G
GALNTL6     AU018010chr4:
173372982-173372982
CTintronicDe novo--Yuen2017 G
GALNTL6     AU018010chr4:
173381876-173381876
TAintronicDe novo--Yuen2017 G
GALNTL6     2-1429-004chr4:
172843479-172843479
CCGTintronicDe novo--Yuen2017 G
GALNTL6     AU3875301chr4:
173087444-173087444
AGintronicDe novo--Yuen2017 G
GALNTL6     2-0003-004chr4:
173539751-173539753
TAATintronicDe novo--Yuen2017 G
GALNTL6     2-0003-004chr4:
173408402-173408402
CCCTTCTintronicDe novo--Yuen2017 G
GALNTL6     2-0198-005chr4:
172808056-172808056
TCintronicDe novo--Yuen2017 G
GALNTL6     AU009903chr4:
173480372-173480372
CTintronicDe novo--Yuen2017 G
GALNTL6     2-0309-004chr4:
174000003-174000003
GAintergenicDe novo--Yuen2017 G
GALNTL6     2-1358-003chr4:
173028226-173028226
GAintronicDe novo--Yuen2017 G
GALNTL6     2-1358-003chr4:
173028146-173028146
TGintronicDe novo--Yuen2017 G
GALNTL6     1-0345-004chr4:
173939225-173939239
AAGACAGAGAGATGGAintronicDe novo--Yuen2017 G
GALNTL6     1-0193-003chr4:
173670697-173670697
CGintronicDe novo--Yuen2017 G
GALNTL6     1-0638-003chr4:
172916474-172916484
TTCCATCCATCTTCCATCintronicDe novo--Yuen2017 G
GALNTL6     1-0497-003chr4:
173468948-173468948
AGintronicDe novo--Yuen2017 G
GALNTL6     1-0206-005chr4:
173398558-173398558
GAintronicDe novo--Yuen2017 G
GALNTL6     1-0125-003chr4:
173184572-173184572
CTintronicDe novo--Yuen2017 G
GALNTL6     1-0595-005chr4:
173983114-173983114
GAintergenicDe novo--Yuen2017 G
GALNTL6     1-0460-003chr4:
173469490-173469490
CGintronicDe novo--Yuen2017 G
GALNTL6     AU4122301chr4:
173043253-173043253
CAintronicDe novo--Yuen2017 G
GALNTL6     AU3727303chr4:
172950124-172950127
GAAAGAAintronicDe novo--Yuen2017 G
GALNTL6     AU3727303chr4:
173745396-173745396
GAintronicDe novo--Yuen2017 G
GALNTL6     5-0110-003chr4:
173348807-173348807
CGintronicDe novo--Yuen2017 G
GALNTL6     2-0198-004chr4:
172808056-172808056
TCintronicDe novo--Yuen2017 G
GALNTL6     iHART3023chr4:
173804010-173804011
TCTexonicPaternalframeshift deletionNM_001034845c.994delCp.P332fs-8.25E-6Ruzzo2019 G
GALNTL6     1-0820-003chr4:
173200990-173200990
ATintronicDe novo--Yuen2017 G
GALNTL6     12641.p1chr4:
173873251-173873251
CGexonicDe novononsynonymous SNVNM_001034845c.C1213Gp.P405A25.14.969E-5Ji2016 E
Krumm2015 E
GALNTL6     1-0547-003chr4:
174016204-174016204
AGintergenicDe novo--Yuen2017 G
GALNTL6     2-0270-003chr4:
173975591-173975591
TCintergenicDe novo--Yuen2017 G
GALNTL6     3-0080-000chr4:
173129264-173129264
TCintronicDe novo--Yuen2016 G
Yuen2017 G
GALNTL6     AU4260303chr4:
173286426-173286426
CGintronicDe novo--Yuen2017 G
GALNTL6     A9chr4:
173825623-173825623
GCintronicDe novo--Wu2018 G
GALNTL6     1-0994-003chr4:
173255242-173255242
GAintronicDe novo--Yuen2017 G
GALNTL6     1-0935-003chr4:
173754231-173754231
CTintronicDe novo--Yuen2017 G
GALNTL6     1-0197-004chr4:
172964985-172964985
GCintronicDe novo--Yuen2017 G
GALNTL6     SJD_50chr4:
173150811-173150811
TGexonicMaternalnonsynonymous SNVNM_001034845c.T143Gp.F48C17.32-Toma2013 E
GALNTL6     1-0206-004chr4:
173398558-173398558
GAintronicDe novo--Yuen2017 G
GALNTL6     AU048206chr4:
173329859-173329859
GAintronicDe novo--Yuen2017 G
GALNTL6     12628.p1chr4:
173380115-173380115
AGintronicDe novo--Werling2018 G
GALNTL6     1-0715-003chr4:
173681868-173681868
TGintronicDe novo--Yuen2017 G
GALNTL6     2-1592-003chr4:
173859175-173859175
AGintronicDe novo--Yuen2017 G
GALNTL6     AU3846302chr4:
173888034-173888034
TCintronicDe novo--Yuen2017 G
GALNTL6     1-0604-003chr4:
172856815-172856815
TAintronicDe novo--Yuen2017 G
GALNTL6     AU3703302chr4:
173829756-173829756
CTintronicDe novo--Yuen2017 G
GALNTL6     AU038203chr4:
173015462-173015462
TCintronicDe novo--Yuen2017 G
GALNTL6     2-1730-003chr4:
173482171-173482171
AGintronicDe novo--Yuen2017 G
GALNTL6     13393.p1chr4:
172785185-172785185
TCintronicDe novo--Turner2016 G
GALNTL6     2-1116-003chr4:
173209096-173209096
GAintronicDe novo--Yuen2016 G
Yuen2017 G
GALNTL6     5-0087-003chr4:
173733047-173733052
ATTTTTATTTTTTintronicDe novo--Yuen2017 G
GALNTL6     AU063005chr4:
173845969-173845969
CAintronicDe novo--Yuen2017 G
GALNTL6     1-0651-003chr4:
172800656-172800656
TCintronicDe novo--Yuen2017 G
GALNTL6     AU3398301chr4:
173489766-173489766
GAintronicDe novo--Yuen2017 G
GALNTL6     AU047904chr4:
173916044-173916044
TCintronicDe novo--Yuen2017 G
GALNTL6     2-1355-004chr4:
173916549-173916549
GAintronicDe novo--Yuen2017 G
GALNTL6     AU058104chr4:
172774306-172774306
GAintronicDe novo--Yuen2017 G
GALNTL6     1-0161-003chr4:
173037903-173037903
TCintronicDe novo--Yuen2017 G
GALNTL6     1-0835-003chr4:
173847688-173847688
CTintronicDe 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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