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Results for "SH3GLB1"

Variant Events: 11

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
SH3GLB1     12793.p1chr1:
87189700-87189700
CAintronicDe novo--Turner2016 G
SH3GLB1     AU3891302chr1:
87194080-87194080
CTintronicDe novo--Trost2022 G
Yuen2017 G
Zhou2022 GE
SH3GLB1     2-1315-003chr1:
87280436-87280436
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SH3GLB1     5-0084-003chr1:
87276813-87276814
CACintergenicDe novo--Yuen2017 G
SH3GLB1     2-0309-004chr1:
87268712-87268712
AGintergenicDe novo--Yuen2017 G
SH3GLB1     SP0238882chr1:
87195786-87195787
GTGexonicframeshift deletionNM_001206652c.626delTp.V209fs--Zhou2022 GE
SH3GLB1     mAGRE5808chr1:
87200761-87200761
GAsplicingMaternalsplicing20.9-Cirnigliaro2023 G
SH3GLB1     2-1302-003chr1:
87302770-87302770
GAintergenicDe novo--Yuen2017 G
SH3GLB1     111311chr1:
87194161-87194161
AGexonicnonsynonymous SNVNM_001206651c.A646Gp.K216E--Woodbury-Smith2022 E
SH3GLB1     9-0011-003chr1:
87180654-87180654
CTintronicDe novo--Trost2022 G
SH3GLB1     SJD_50.5chr1:
87184024-87184024
GAintronicDe novo--Trost2022 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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