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Results for "GEMIN4"

Variant Events: 13

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
GEMIN4     SP0013743chr17:
648753-648753		CTexonicDe novononsynonymous SNVNM_015721c.G2530Ap.E844K20.9-Fu2022 E
Trost2022 G
Zhou2022 GE
GEMIN4     SP0054001chr17:
650585-650585		GAexonicDe novononsynonymous SNVNM_015721c.C698Tp.P233L0.361.659E-5Fu2022 E
Trost2022 G
Zhou2022 GE
GEMIN4     Shi2013:2chr17:
650309-650309		CTexonicInheritednonsynonymous SNVNM_015721c.G974Ap.R325Q10.780.0016Shi2013 G
GEMIN4     iHART2627chr17:
648105-648106		GTGexonicPaternalstoplossNM_015721c.3177delAp.X1059C--Ruzzo2019 G
GEMIN4     iHART1108chr17:
649777-649777		GGATexonicMaternalframeshift insertionNM_015721c.1505_1506insATp.I502fs-1.663E-5Ruzzo2019 G
GEMIN4     iHART2628chr17:
648105-648106		GTGexonicPaternalstoplossNM_015721c.3177delAp.X1059C--Ruzzo2019 G
GEMIN4     SP0013743chr17:
649038-649038		GAexonicDe novononsynonymous SNVNM_015721c.C2245Tp.P749S13.4-Trost2022 G
Zhou2022 GE
GEMIN4     Shi2013:1chr17:
650309-650309		CTexonicInheritednonsynonymous SNVNM_015721c.G974Ap.R325Q10.780.0016Shi2013 G
GEMIN4     SP0061379chr17:
649631-649631		CTexonicDe novononsynonymous SNVNM_015721c.G1652Ap.R551H9.9863.317E-5Trost2022 G
GEMIN4     mAGRE1108chr17:
649777-649777		GGATexonicMaternalframeshift insertionNM_015721c.1505_1506insATp.I502fs-1.663E-5Cirnigliaro2023 G
GEMIN4     mAGRE5114chr17:
649233-649233		GAexonicPaternalstopgainNM_015721c.C2050Tp.R684X45.02.497E-5Cirnigliaro2023 G
GEMIN4     mAGRE2628chr17:
648105-648106		GTGexonicPaternalstoplossNM_015721c.3177delAp.X1059C--Cirnigliaro2023 G
GEMIN4     mAGRE2627chr17:
648105-648106		GTGexonicPaternalstoplossNM_015721c.3177delAp.X1059C--Cirnigliaro2023 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
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