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Results for "BLVRA"

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
BLVRA     1-0671-003chr7:
43885331-43885331
GAintergenicDe novo--Yuen2017 G
BLVRA     SMHC01543s000chr7:
43827621-43827621
CTexonicDe novononsynonymous SNVNM_000712
NM_001253823
c.C131T
c.C131T
p.S44L
p.S44L
20.8-Yuan2023 E
BLVRA     SP0201944chr7:
43832378-43832378
GAexonicDe novononsynonymous SNVNM_000712
NM_001253823
c.G319A
c.G319A
p.A107T
p.A107T
16.07-Trost2022 G
BLVRA     MSSNG00418-003chr7:
43840712-43840712
CTintronicDe novo--Trost2022 G
BLVRA     AU4197301chr7:
43817333-43817333
GAintronicDe novo--Trost2022 G
Yuen2017 G
BLVRA     1-1155-003chr7:
43798838-43798838
TCintronicDe novo--Trost2022 G
BLVRA     2-1724-003chr7:
43804861-43804861
TCintronicDe novo--Trost2022 G
BLVRA     1-0354-006chr7:
43850235-43850235
GAintergenicDe novo--Yuen2017 G
BLVRA     2-1715-004chr7:
43838834-43838834
CAintronicDe novo--Trost2022 G
Yuen2017 G
BLVRA     7-0067-003chr7:
43839019-43839019
GCintronicDe novo--Trost2022 G
Yuen2017 G
BLVRA     AU4093304chr7:
43811947-43811947
AGintronicDe novo--Trost2022 G
Yuen2017 G
BLVRA     A5chr7:
43895161-43895161
GAintergenicDe novo--Wu2018 G
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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