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Results for "SRBD1"

Variant Events: 19

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
SRBD1     1-0629-003chr2:
45729809-45729809
GAintronicDe novo--Yuen2017 G
SRBD1     1-0261-004chr2:
45822709-45822709
TGintronicDe novo--Yuen2017 G
SRBD1     1-0511-003chr2:
45630231-45630231
TCintronicDe novo--Yuen2017 G
SRBD1     MT_69chr2:
45780792-45780792
ACexonicMaternalnonsynonymous SNVNM_018079c.T1487Gp.L496R17.65-Toma2013 E
SRBD1     1-0445-003chr2:
45764782-45764782
TGintronicDe novo--Yuen2017 G
SRBD1     1-0441-003chr2:
45854143-45854143
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
SRBD1     AU2139301chr2:
45731153-45731153
TAintronicDe novo--Yuen2017 G
SRBD1     10C103541chr2:
45778322-45778322
TAexonicDe novononsynonymous SNVNM_018079c.A1617Tp.L539F20.5-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SRBD1     2-1594-003chr2:
45837693-45837693
TAintronicDe novo--Yuen2017 G
SRBD1     12238.p1chr2:
45789855-45789855
GAexonicDe novononsynonymous SNVNM_018079c.C1346Tp.T449M19.06-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
SRBD1     2-0285-004chr2:
45634037-45634037
CTintronicDe novo--Yuen2017 G
SRBD1     5-0110-003chr2:
45666861-45666861
ACintronicDe novo--Yuen2017 G
SRBD1     7-0103-003chr2:
45819283-45819283
CTintronicDe novo--Yuen2017 G
SRBD1     5-0095-003chr2:
45805882-45805882
CAintronicDe novo--Yuen2017 G
SRBD1     AU3787302chr2:
45860814-45860814
CAintergenicDe novo--Yuen2017 G
SRBD1     AU1687302chr2:
45691103-45691103
GAintronicDe novo--Yuen2017 G
SRBD1     AU2035301chr2:
45706409-45706409
CTintronicDe novo--Yuen2017 G
SRBD1     AU1687303chr2:
45691103-45691103
GAintronicDe novo--Yuen2017 G
SRBD1     AU2035302chr2:
45706409-45706409
CTintronicDe novo--Yuen2017 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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