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Results for "B3GNTL1"

Variant Events: 12

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
B3GNTL1     74-0117chr17:
80975663-80975663
CTintronicUnknown--Michaelson2012 G
B3GNTL1     PN400546chr17:
81006427-81006427
AGexonicDe novononsynonymous SNVNM_001009905c.T197Cp.I66T16.642.471E-5Leblond2019 E
B3GNTL1     2-0242-004chr17:
80976451-80976451
CGintronicDe novo--Yuen2017 G
B3GNTL1     AU011704chr17:
80975663-80975663
CTintronicDe novo--Yuen2017 G
B3GNTL1     3-0216-000chr17:
80963262-80963262
TCintronicDe novo--Yuen2017 G
B3GNTL1     1-0585-003chr17:
81012996-81013005
GGAGACAGAGGGAGintergenicDe novo--Yuen2017 G
B3GNTL1     SP0091972chr17:
80904885-80904885
ACintronicDe novo--Fu2022 E
B3GNTL1     AU3702306chr17:
81026019-81026019
CGintergenicDe novo--Yuen2017 G
B3GNTL1     1-0651-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
B3GNTL1     AU4015301chr17:
81027733-81027733
GCintergenicDe novo--Yuen2017 G
B3GNTL1     532-05-104341chr17:
81009678-81009678
CCGUTR5De novo--Satterstrom2020 E
B3GNTL1     2-1407-003chr17:
80945319-80945319
ACintronicDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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