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Results for "MELTF"

Variant Events: 12

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
MELTF     1-0695-004chr3:
196728570-196728570
CGdownstreamDe novo--Trost2022 G
MELTF     mAGRE5104chr3:
196751357-196751357
CAsplicingPaternalsplicing14.378.85E-6Cirnigliaro2023 G
MELTF     1-0264-006chr3:
196750845-196750845
GAintronicDe novo--Trost2022 G
MELTF     mAGRE5425chr3:
196751292-196751292
GGGTexonicMaternalframeshift insertionNM_005929
NM_033316
c.368_369insAC
c.368_369insAC
p.T123fs
p.T123fs
-1.669E-5Cirnigliaro2023 G
MELTF     mAGRE5014chr3:
196742282-196742283
TGTexonicMaternalframeshift deletionNM_005929c.1186delCp.Q396fs-2.875E-5Cirnigliaro2023 G
MELTF     1-0695-004chr3:
196728566-196728566
ACdownstreamDe novo--Trost2022 G
MELTF     mAGRE5312chr3:
196733418-196733418
ACsplicingMaternalsplicing18.051.714E-5Cirnigliaro2023 G
MELTF     13166.p1chr3:
196744041-196744041
GAexonicnonsynonymous SNVNM_005929c.C833Tp.A278V27.6-Zhou2022 GE
MELTF     2-0298-004chr3:
196733418-196733418
AACsplicingDe novosplicing--Yuen2015 G
MELTF     AU193Achr3:
196753547-196753547
GAexonicDe novosynonymous SNVNM_005929
NM_033316
c.C288T
c.C288T
p.G96G
p.G96G
-3.303E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MELTF     TRE_2619chr3:
196737585-196737585
GAexonicDe novosynonymous SNVNM_005929c.C1314Tp.A438A-8.406E-6Fu2022 E
MELTF     mAGRE5105chr3:
196751357-196751357
CAsplicingPaternalsplicing14.378.85E-6Cirnigliaro2023 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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