or
or
Exact

Results for "CELA3B"

Variant Events: 7

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
CELA3B     09C79779chr1:
22313131-22313131
CTexonicDe novosynonymous SNVNM_007352c.C750Tp.P250P--Satterstrom2020 E
CELA3B     AU4033305chr1:
22313080-22313080
TCexonicDe novosynonymous SNVNM_007352c.T699Cp.H233H-8.0E-4Yuen2017 G
CELA3B     AU4033305chr1:
22313083-22313083
CTexonicDe novosynonymous SNVNM_007352c.C702Tp.G234G-8.0E-4Yuen2017 G
CELA3B     13951.p1chr1:
22313015-22313015
CTintronicDe novo-2.476E-5Krumm2015 E
Turner2016 G
CELA3B     1-0483-003chr1:
22321001-22321001
AGintergenicDe novo--Yuen2017 G
CELA3B     AU3764302chr1:
22318908-22318908
CAintergenicDe novo--Yuen2017 G
CELA3B     G01-GEA-25-HIchr1:
22307385-22307385
CTexonicDe novosynonymous SNVNM_007352c.C198Tp.D66D-9.0E-4Lim2017 E
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