Variant Results

or

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

mAGRE5104

chr3:
196751357-196751357

C

A

splicing

Paternal

splicing

14.37

8.85E-6

Cirnigliaro2023 G

MELTF

mAGRE5425

chr3:
196751292-196751292

G

GGT

exonic

Maternal

frameshift insertion

NM_005929
NM_033316

c.368_369insAC
c.368_369insAC

p.T123fs
p.T123fs

-

1.669E-5

Cirnigliaro2023 G

MELTF

mAGRE5014

chr3:
196742282-196742283

TG

T

exonic

Maternal

frameshift deletion

NM_005929

c.1186delC

p.Q396fs

-

2.875E-5

Cirnigliaro2023 G

MELTF

mAGRE5312

chr3:
196733418-196733418

A

C

splicing

Maternal

splicing

18.05

1.714E-5

Cirnigliaro2023 G

MELTF

13166.p1

chr3:
196744041-196744041

G

A

exonic

nonsynonymous SNV

NM_005929

c.C833T

p.A278V

27.6

-

Zhou2022 GE

MELTF

mAGRE5105

chr3:
196751357-196751357

C

A

splicing

Paternal

splicing

14.37

8.85E-6

Cirnigliaro2023 G

MELTF

1-0695-004

chr3:
196728570-196728570

C

G

downstream

De novo

-

Trost2022 G

MELTF

1-0264-006

chr3:
196750845-196750845

G

A

intronic

De novo

-

Trost2022 G

MELTF

1-0695-004

chr3:
196728566-196728566

A

C

downstream

De novo

-

Trost2022 G

MELTF

2-0298-004

chr3:
196733418-196733418

A

AC

splicing

De novo

splicing

-

Yuen2015 G

MELTF

AU193A

chr3:
196753547-196753547

G

A

exonic

De novo

synonymous SNV

NM_005929
NM_033316

c.C288T
c.C288T

p.G96G
p.G96G

-

3.303E-5

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MELTF

TRE_2619

chr3:
196737585-196737585

G

A

exonic

De novo

synonymous SNV

NM_005929

c.C1314T

p.A438A

-

8.406E-6

Fu2022 E

Source Variant Information

, -

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 notes	View
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