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Results for "TOM1L1"

Variant Events: 8

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
TOM1L1     mAGRE5305chr17:
53014009-53014009
GAsplicingPaternalsplicing16.856.736E-5Cirnigliaro2023 G
TOM1L1     2-1625-003chr17:
52983927-52983927
GAintronicDe novo--Trost2022 G
TOM1L1     12891.p1chr17:
53024667-53024667
TCexonicMosaic Mat.synonymous SNVNM_005486c.T1176Cp.Y392Y--Dou2017 E
TOM1L1     SP0063977chr17:
52990197-52990197
ACintronicDe novo--Fu2022 E
TOM1L1     JASD_Fam0085chr17:
52978235-52978236
TGTexonicDe novoframeshift deletionNM_005486c.10delGp.G4fs--Takata2018 E
TOM1L1     AU028305chr17:
52983617-52983617
GAintronicDe novo--Trost2022 G
Yuen2017 G
TOM1L1     5-0049-003chr17:
53001311-53001311
CTintronicDe novo--Trost2022 G
TOM1L1     5-5217-003chr17:
53038006-53038006
TCintronicDe novo-8.303E-6Trost2022 G
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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