or
or
Exact

Results for "MVB12B"

Variant Events: 18

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
MVB12B     JASD_Fam0224chr9:
129184210-129184210
ATexonicDe novononsynonymous SNVNM_033446c.A740Tp.N247I23.1-Takata2018 E
MVB12B     1-0652-004chr9:
129349961-129349961
GAintergenicDe novo--Yuen2017 G
MVB12B     AU3903302chr9:
129253721-129253721
GCintronicDe novo--Yuen2017 G
MVB12B     7-0149-003chr9:
129219893-129219893
CTintronicDe novo--Yuen2017 G
MVB12B     1-0755-003chr9:
129310896-129310896
AGintergenicDe novo--Yuen2017 G
MVB12B     AU1933301chr9:
129103187-129103187
CTintronicDe novo--Yuen2017 G
MVB12B     1-0406-003chr9:
129126976-129126976
GGACAintronicDe novo--Yuen2017 G
MVB12B     1-0569-003chr9:
129108543-129108543
AGintronicDe novo--Yuen2017 G
MVB12B     AU030104chr9:
129323239-129323239
TCintergenicDe novo--Yuen2017 G
MVB12B     2-1644-003chr9:
129112518-129112518
GGCAintronicDe novo--Yuen2017 G
MVB12B     13324.p1chr9:
129146454-129146454
CAintronicDe novo--Turner2016 G
MVB12B     AU030103chr9:
129323239-129323239
TCintergenicDe novo--Yuen2017 G
MVB12B     14015.p1chr9:
129279292-129279292
TCintergenicDe novo--Turner2016 G
MVB12B     2-1529-003chr9:
129140890-129140903
TTCTCTCTCTCTCTTTCTCTCTCTCTintronicDe novo--Yuen2017 G
MVB12B     2-1626-003chr9:
129223654-129223654
ACintronicDe novo--Yuen2017 G
MVB12B     7-0058-003chr9:
129289458-129289468
TGCCATGAATATintergenicDe novo--Yuen2017 G
MVB12B     1-0706-003chr9:
129313222-129313222
GCintergenicDe novo--Yuen2017 G
MVB12B     2-1620-003chr9:
129163147-129163147
GAintronicDe 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