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Results for "BOD1L1"

Variant Events: 13

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
BOD1L1     09C90239chr4:
13605662-13605662
TCexonicDe novosynonymous SNVNM_148894c.A2862Gp.K954K--Satterstrom2020 E
BOD1L1     PN400506chr4:
13574351-13574353
CTTCintronicUnknown-6.0E-4Leblond2019 E
BOD1L1     PN400321chr4:
13574351-13574353
CTTCintronicUnknown-6.0E-4Leblond2019 E
BOD1L1     PN400305chr4:
13574351-13574353
CTTCintronicUnknown-6.0E-4Leblond2019 E
BOD1L1     11959.p1chr4:
13603626-13603626
ACexonicDe novononsynonymous SNVNM_148894c.T4898Gp.V1633G2.343.0E-4Satterstrom2020 E
BOD1L1     PN400495chr4:
13574351-13574353
CTTCintronicUnknown-6.0E-4Leblond2019 E
BOD1L1     14433.p1chr4:
13584354-13584354
TCexonicDe novononsynonymous SNVNM_148894c.A8440Gp.N2814D10.22-Ji2016 E
Krumm2015 E
BOD1L1     2-1437-003chr4:
13587501-13587501
CTintronicDe novo--Yuen2017 G
BOD1L1     iHART1307chr4:
13571640-13571640
GAexonicPaternalstopgainNM_148894c.C9151Tp.R3051X18.933.156E-5Ruzzo2019 G
BOD1L1     iHART1309chr4:
13571640-13571640
GAexonicPaternalstopgainNM_148894c.C9151Tp.R3051X18.933.156E-5Ruzzo2019 G
BOD1L1     SSC11758chr4:
13584354-13584354
TCexonicDe novononsynonymous SNVNM_148894c.A8440Gp.N2814D10.22-Lim2017 E
BOD1L1     2-0296-003chr4:
13602459-13602459
GAexonicDe novononsynonymous SNVNM_148894c.C6065Tp.A2022V11.818.324E-6Yuen2015 G
Yuen2017 G
BOD1L1     PN400194chr4:
13574351-13574353
CTTCintronicUnknown-6.0E-4Leblond2019 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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