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Results for "TGM7"

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
TGM7     08C77056chr15:
43579744-43579744
CTexonicDe novononsynonymous SNVNM_052955c.G682Ap.A228T26.6-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TGM7     mAGRE4676chr15:
43571418-43571422
TCGTCTexonicPaternalframeshift deletionNM_052955c.1732_1735delp.D578fs--Cirnigliaro2023 G
TGM7     iHART3249chr15:
43579747-43579749
TCATexonicPaternalframeshift deletionNM_052955c.677_678delp.V226fs--Ruzzo2019 G
TGM7     2-0733-003chr15:
43592271-43592271
GAintronicDe novo--Trost2022 G
TGM7     MSSNG00423-004chr15:
43569009-43569009
CAintronicDe novo--Trost2022 G
TGM7     AU3861301chr15:
43596325-43596325
GAintergenicDe novo--Yuen2017 G
TGM7     SP0070786chr15:
43571999-43571999
TCexonicDe novononsynonymous SNVNM_052955c.A1502Gp.E501G2.237-Fu2022 E
Trost2022 G
Zhou2022 GE
TGM7     MSSNG00423-004chr15:
43578165-43578165
GCintronicDe novo--Trost2022 G
TGM7     EGAN00001101115chr15:
43585134-43585134
ACexonicDe novononsynonymous SNVNM_052955c.T212Gp.L71R14.78-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TGM7     949_15auchr15:
43579797-43579797
GAexonicDe novononsynonymous SNVNM_052955c.C629Tp.A210V11.29-Fu2022 E
TGM7     AU4013301chr15:
43579747-43579749
TCATexonicPaternalframeshift deletionNM_052955c.677_678delp.V226fs--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
Curation notesView
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