or
or
Exact

Results for "B3GLCT"

Variant Events: 42

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
B3GLCT     1-0885-003chr13:
32148524-32148524
AGintergenicDe novo--Yuen2017 G
B3GLCT     AU051503chr13:
31968175-31968175
TAintergenicDe novo--Yuen2017 G
B3GLCT     1-0565-003chr13:
32003269-32003269
TAintergenicDe novo--Yuen2017 G
B3GLCT     iHART1470chr13:
31891736-31891736
TAexonicPaternalstopgainNM_194318c.T1098Ap.Y366X19.14-Ruzzo2019 G
B3GLCT     1-0329-004chr13:
31833481-31833481
GAintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     2-1186-003chr13:
32256715-32256715
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
B3GLCT     2-1178-003chr13:
32014486-32014486
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
B3GLCT     AU050704chr13:
32259958-32259958
TCintergenicDe novo--Yuen2017 G
B3GLCT     2-1005-003chr13:
31995224-31995224
TGintergenicDe novo--Yuen2017 G
B3GLCT     AU050604chr13:
31782542-31782542
CTintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     AU3905301chr13:
31876021-31876021
CTintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     1-0028-003chr13:
31925990-31925990
TCintergenicDe novo--Yuen2017 G
B3GLCT     2-1431-003chr13:
32140109-32140109
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
B3GLCT     5-0074-003chr13:
31986196-31986196
GAintergenicDe novo--Yuen2017 G
B3GLCT     AU3801301chr13:
32144605-32144605
TCintergenicDe novo--Yuen2017 G
B3GLCT     2-1549-003chr13:
32135288-32135288
GAintergenicDe novo--Yuen2017 G
B3GLCT     1-0469-003chr13:
31795523-31795525
TAATintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     2-1605-003chr13:
32189747-32189747
GAintergenicDe novo--Yuen2017 G
B3GLCT     2-1368-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
B3GLCT     1-0945-003chr13:
31894600-31894600
CAintronicDe novo--Trost2022 G
B3GLCT     2-1402-003chr13:
31837382-31837382
AGintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     1-0153-004Achr13:
31827785-31827785
AGintronicDe novo--Trost2022 G
B3GLCT     2-1368-003chr13:
31840374-31840374
TAintronicDe novo--Trost2022 G
B3GLCT     2-1106-004chr13:
31787128-31787128
CTintronicDe novo--Trost2022 G
B3GLCT     2-0205-003chr13:
31805288-31805288
CTintronicDe novo--Trost2022 G
B3GLCT     11857.p1chr13:
32170706-32170706
CGintergenicDe novo--Werling2018 G
B3GLCT     1-0593-003chr13:
32285206-32285206
GAintergenicDe novo--Yuen2017 G
B3GLCT     AU3724301chr13:
32105462-32105462
CTintergenicDe novo--Yuen2017 G
B3GLCT     AU3808304chr13:
32248101-32248101
AGintergenicDe novo--Yuen2017 G
B3GLCT     7-0256-003chr13:
31934636-31934645
ACAATTCAATACAATintergenicDe novo--Yuen2017 G
B3GLCT     1-0579-003chr13:
32308676-32308676
GAintergenicDe novo--Yuen2017 G
B3GLCT     AU045514chr13:
31840357-31840357
GAintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     AU030703chr13:
31784566-31784566
GAintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     1-0627-003chr13:
32047340-32047340
TCintergenicDe novo--Yuen2017 G
B3GLCT     AU3891302chr13:
31813074-31813074
CGintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     mAGRE1470chr13:
31891736-31891736
TAexonicPaternalstopgainNM_194318c.T1098Ap.Y366X19.14-Cirnigliaro2023 G
B3GLCT     1-0518-003chr13:
32187405-32187407
TGGTGintergenicDe novo--Yuen2017 G
B3GLCT     AU3057302chr13:
32124324-32124324
GAintergenicDe novo--Yuen2017 G
B3GLCT     1-0435-003chr13:
32308566-32308566
CTintergenicDe novo--Yuen2017 G
B3GLCT     7-0219-003chr13:
31899058-31899058
GAintronicDe novo--Trost2022 G
Yuen2017 G
B3GLCT     7-0223-003chr13:
32230012-32230012
GAintergenicDe novo--Yuen2017 G
B3GLCT     AU1764301chr13:
31981818-31981818
AGintergenicDe novo--Yuen2017 G
Source Variant Information

, -

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
More