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Results for "FGD6"

Variant Events: 22

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
FGD6     Lim2017:10255chr12:
95531350-95531350
TGexonicDe novononsynonymous SNVNM_018351c.A2942Cp.D981A20.7-Lim2017 E
FGD6     1-0329-004chr12:
95518954-95518954
GCintronicDe novo--Yuen2017 G
FGD6     PN400548chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     AU3605304chr12:
95589256-95589256
CTintronicDe novo--Yuen2017 G
FGD6     PN400534chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     PN400544chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     1-0652-003chr12:
95583695-95583699
TAATATintronicDe novo--Yuen2017 G
FGD6     Cukier2014:37994chr12:
95604078-95604078
GAexonicUnknownstopgainNM_018351c.C982Tp.Q328X27.5-Cukier2014 E
FGD6     2-1250-003chr12:
95564574-95564574
ACintronicDe novo--Yuen2017 G
FGD6     PN400480chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     2-1275-003chr12:
95511521-95511521
TCintronicDe novo--Yuen2017 G
FGD6     PN400287chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     PN400568chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     1-0652-004chr12:
95583695-95583699
TAATATintronicDe novo--Yuen2017 G
FGD6     1-0142-005chr12:
95510016-95510016
TCintronicDe novo--Yuen2017 G
FGD6     PN400367chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     PN400533chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     PN400542chr12:
95528593-95528593
GAexonicUnknownnonsynonymous SNVNM_018351c.C3004Tp.R1002C19.310.0053Leblond2019 E
FGD6     A9chr12:
95564237-95564237
GAintronicDe novo--Wu2018 G
FGD6     iHART2967chr12:
95604292-95604292
GTexonicPaternalstopgainNM_018351c.C768Ap.C256X15.6-Ruzzo2019 G
FGD6     10255chr12:
95531350-95531350
TGexonicDe novononsynonymous SNVNM_018351c.A2942Cp.D981A20.7-Satterstrom2020 E
FGD6     346-09-111764chr12:
95603101-95603101
TCexonicDe novosynonymous SNVNM_018351c.A1959Gp.Q653Q-1.654E-5Satterstrom2020 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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