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Results for "MAN1B1"

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
MAN1B1     1-0835-003chr9:
139996193-139996208
CTGTGTGTGTGTGTGTCTGTGTGTGTGTGTintronicDe novo--Yuen2017 G
MAN1B1     1-0402-003chr9:
139983050-139983050
CGintronicDe novo--Yuen2017 G
MAN1B1     SP0025011chr9:
139990875-139990875
GAintronicDe novo-9.997E-6Fu2022 E
MAN1B1     SP0107580chr9:
139994369-139994369
CTintronicDe novo-8.251E-6Fu2022 E
MAN1B1     2-1514-003chr9:
140003042-140003042
AGexonicDe novostoplossNM_016219c.A2099Gp.X700W14.97-Yuen2017 G
MAN1B1     iHART3272chr9:
139992377-139992379
CAGCexonicPaternalframeshift deletionNM_016219c.719_720delp.Q240fs--Ruzzo2019 G
MAN1B1     Al-Mubarak2017:ASD-16chr9:
140002840-140002840
GTexonicUnknownnonsynonymous SNVNM_016219c.G1897Tp.V633F19.961.656E-5Al-Mubarak2017 E
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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