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Results for "GEMIN5"

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
GEMIN5     SP0061824chr5:
154271892-154271893
TGTintronicDe novo--Fu2022 E
GEMIN5     SP0077637chr5:
154299529-154299529
TCexonicDe novononsynonymous SNVNM_001252156
NM_015465
c.A1594G
c.A1597G
p.K532E
p.K533E
15.72-Fu2022 E
GEMIN5     2-1526-003chr5:
154282753-154282753
CCAintronicDe novo-1.666E-5Yuen2017 G
GEMIN5     SP0029214chr5:
154282228-154282228
GAexonicDe novononsynonymous SNVNM_001252156
NM_015465
c.C2734T
c.C2737T
p.H912Y
p.H913Y
26.8-Fu2022 E
GEMIN5     10C110253chr5:
154308038-154308038
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
GEMIN5     2-1452-003chr5:
154305035-154305035
TAintronicDe novo--Yuen2016 G
Yuen2017 G
GEMIN5     2-1357-004chr5:
154306472-154306485
AGGTGATACACGCCAintronicDe novo--Yuen2017 G
GEMIN5     Cukier2014:17678chr5:
154307070-154307070
GCexonicUnknownnonsynonymous SNVNM_001252156
NM_015465
c.C952G
c.C955G
p.R318G
p.R319G
28.40.0198Cukier2014 E
GEMIN5     AU071203chr5:
154297888-154297891
TAAATAAAAintronicDe 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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