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Results for "SREBF2"

Variant Events: 9

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
SREBF2     1-0079-008chr22:
42233215-42233215
GAintronicDe novo--Yuen2017 G
SREBF2     2-1633-003chr22:
42273653-42273653
CTintronicDe novo--Yuen2017 G
SREBF2     14644.p1chr22:
42299006-42299006
GAexonicDe novosynonymous SNVNM_004599c.G2940Ap.L980L1.5751.123E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SREBF2     7-0133-003chr22:
42250490-42250490
AGintronicDe novo--Yuen2017 G
SREBF2     1-0191-004chr22:
42264272-42264272
GAintronicDe novo--Yuen2017 G
SREBF2     AU046904chr22:
42244083-42244083
CGintronicDe novo--Yuen2017 G
SREBF2     AU046904chr22:
42268676-42268676
CGintronicDe novo--Yuen2017 G
SREBF2     Cukier2014:17478chr22:
42271378-42271378
ACexonicUnknownnonsynonymous SNVNM_004599c.A1127Cp.Y376S29.7-Cukier2014 E
SREBF2     11415.p1chr22:
42294664-42294664
AGexonicMosaicnonsynonymous SNVNM_004599c.A2617Gp.I873V1.8989.104E-5Dou2017 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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